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212 Cards in this Set
- Front
- Back
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What medical risks exist for the infant of an adolescent mother as compared to an infant born to a woman who is 20 or older? |
-Low Birth Weight -greater risk for vertically acquired sexually transmitted diseases (given the higher incidence of STDS in the adolescent pop) -poorer developmental outcomes -increased risk of premature death of mother compared to her non-prego peers |
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HEEADSSS |
Adolescent patient interview components! Home Education/Employment Eating disorder screening Activities/Affiliations/aspirations Drugs Sexuality Suicidal behavior Safety |
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Which of the following adverse effects have been demonstrated in the newborn when a pregnant woman uses different substances during pregnancy? |
-Tobacco use during pregnancy can cause infants to have low birth weight. - Drinking one six-pack of beer per week puts Rose's infant at risk of fetal alcohol syndrome. -Cocaine and other stimulants such as amphetamines cause vasoconstriction that can lead to placental insufficiency and low birth weight. |
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fetal growth restriction. Which of the following factors may limit fetal growth? |
Maternal factors: Poor weight gain in the third trimester, Preeclampsia,Maternal prescription or illicit drug use, Maternal infections, Uterine abnormalities: Placental abnormalities, Placenta previa, Placental abruptions, Abnormal umbilical vessel insertions Fetal abnormalities:Fetal malformations,Metabolic disease, Chromosomal abnormalities, Congenital infections |
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Prenatal Lab screening includes: |
Serological screening to determine status for infections such as HIV, rubella, and hepatitis B Blood type and Rh Urine drug screen |
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Which factors increase the risk that HIV will be transmitted from a mother to her infant? |
-Frequent unprotected sex during pregnancy -Advanced maternal HIV disease -Membrane rupture 4 hours or more before delivery if mother not on HAART -Vaginal delivery -Breastfeeding |
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GBS in Prego. When screen? |
All women undergo vaginal-rectal screening for GBS colonization at 35-37 weeks’ gestation to identify GBS and if they should get Intrapartum antibiotic prophylaxis (IAP) |
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In situations in which a rapid HIV antibody test is positive, what steps should be considered in an effort to decrease the risk of HIV transmission to the fetus?
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1. Treat with zidovudine before labor 2. Deliver the baby by cesarean section prior to labor and rom 3. Formula feed not breast feed |
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Which of the following are components of the Apgar score?
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Appearance (skin color) |
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What additional risks should you consider for a baby known to be Small Gestational Age (SGA)?
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At risk for: -Hypoglycemia ( -Hypothermia -Polycythemia (increased hemoglobin/hematocrit) |
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What medications are routinely given to newborns and why?
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2. Hepatitis B vaccine 3. Erythromycin or similar eye antibiotic to decreased risk for transmission of gonococcal conjunctivitis |
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When does Chlamydia trachomatis typically affect newborns as conjunctivitis?
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T or F, hearing loss in congenital CMV is often progressive
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CMV is also associated with seizures, Petechial rash, "blueberry muffin" rash (Will likely resolve over the next several weeks), periventricular calcification, hepatosplenomegaly (will go away in several weeks). Treat with antiviral |
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True or False: There are reported associations between the duration of breastfeeding and a reduction in incidence of obesity, cancer, adult coronary artery disease, certain allergic conditions, type 1 diabetes mellitus, and inflammatory bowel disease.
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True
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Children with inborn errors of metabolism can present with one or more of a wide variety of signs and symptoms. What?
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1. Metabolic acidosis 2. Lethargy 3. Vomiting 4. Seizures 5. Anorexia 6. Unusual odors. |
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Clinical Findings of congenital CMV.
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1. Chorioretinitis 2. Jaundice 3. Hearing loss 4. Intracranial calcifications |
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When can children drink regular cow's milk? What happens if given before?
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12months old. May develop colitis, causing microscopic bleeding and gradually worsening anemia. |
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What is the caloric requirement for a baby 1-2 months of age?
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100-120 cal/kg/day |
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Moro reflex
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This reflex is elicited by an abrupt change in the infant's head position and consists of two parts: * Symmetric abduction* Extension of the arms followed by adduction of the arms, sometimes with a cry. The reflex is present at birth and disappears by age 4 months. The Moro reflex may be used to detect peripheral problems such as congenital musculoskeletal abnormalities or neural plexus injuries. |
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How much vitamin D should babies get and when?
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Breast fed babies, 400 units per day |
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What is the most appropriate position in a car seat for a 2 month old?
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Passenger side back seat, facing rear
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Car Seat Safety
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* Children under age 13 years old should not sit in the front seat.
* The National Safety Transportation Board and the AAP stress that the back seat is the safest place in a vehicle for children. * Car seats for children are required by law in all 50 states. Proper use is essential for optimum performance. * The most effective car-seat restraint is a five-point harness, consisting of two shoulder straps, a lap belt and a crotch strap |
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Which vaccines should be given at 2 month visit?
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DTap MMR HepB (2nd dose) Hib (Haemophilus influenza) IPV (inactivated polio vaccine) PCV 13 (pneumococcal conjugate vaccine) 13 serotypes RotaV |
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What immunizations are given at 12 months?
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MMR HepA |
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Who should get influenza immunization?
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All children 6-59 months of age b/c they are at highest risk. Strongly recommended for household contacts and out of home caregivers of children 0-59 months of age High risk groups--> asthma, lung, heart, or immune system All children under age 19 years |
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Common side effects of immunizations?
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Fussiness Fever for 24 hours (if persists longer than 24 hours--> more serious side effects--> seizures or inconsolability) |
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By what ages should an infant double and triple his or her birth weight?
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Double by 5 months, triple b y 12 months
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Red Reflex
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red reflex is the red or orange color reflected from the fundus through the pupil when viewed through an ophthalmoscope approximately 10 inches from the patient * In other ethnic groups with more skin pigmentation, the color may be variable, but will be darker. * As long as there is symmetric coloration and no leukocoria (white spots), the eye is considered normal. |
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Absence of Red Reflex suggests?
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* Cataracts
* Glaucoma * Retinoblastoma and * Chorioretinitis. |
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What age? Rolls over, reaches for objects, sits unsupported, no head lag, turns to voice, feeds self, babbles |
6 Month Old Developmental Milestones |
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What topics should e discussed with Asia's mom regarding anticipatory guidance at 6 months?
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1. Car seat placement (back passenger side, rear facing) 2. Use of a walker (doesn't help walk sooner, risk of fall down stairs) 3. Dietary Changes (new foods added every 5-7 days) 4. Expected developmental changes (start reading, stranger anxiety) 5. Sleep patterns (take 2 naps per day) |
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Should you use acetaminophen if child has fever after immunizations?
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Use of acetaminophen may cause a lower antibody response for some immunizations. It should be administered only if absolutely necessary. |
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What age is appropriate to wave bye bye, sit without support and say "mama" and "dada"?
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9 months |
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12 month milestones for babies?
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1. Stands alone 2. Well developed "neat" pincer grasp 3. Says "mama" "dada" and 1-2 other words 4. Hands parents books to read, points when wants something, imitates activities and plays ball with examiner |
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Ddx of an incidental RUQ mass in a 9 month old asymptomatic girl.
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Hydronephrosis Neuroblastoma Teratoma Wilms' Tumor |
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What is the most frequently diagnosed neoplasm in infants which presents usually before age 2?
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Neuroblastoma |
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RUQ mass, calcifications, heterogeneous mass with cystic areas (hemorrhage or necrotic tumor). "Small round blue cells" or small, uniform cells forming small rosettes. Increased urinary HVA/VMA |
Neuroblastoma |
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Intrarenal mass on CT which is heterogeneous. Possible pulmonary mets.
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Wilms' Tumor |
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A 33-year-old G1P0 female with a history of medically controlled seizures gives birth vaginally to a boy with IUGR at 38 weeks' gestation. The newborn is noted to have dysmorphic cranial features and his head circumference is 28.5 cm (< 5th percentile). What is another associated abnormality you might expect to see in this newborn?
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CARDIAC DEFECTS The mother was on an anticonvulsant for her seizures. Taking anticonvulsants during pregnancy may lead to cardiac defects, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, IUGR, and microcephaly. Mental retardation may be seen. A rare neonatal side effect is methemoglobinuria. |
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A 10-month-old asymptomatic infant presents with a RUQ mass. Work-up reveals a normocytic anemia, elevated urinary HVA/VMA, and a large heterogeneous mass with scant calcifications on CT. A bone marrow biopsy is performed. Which of the following histologic findings on bone marrow biopsy is most consistent with your suspected diagnosis?
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Small Round Blue cells with dense nuclei forming small rosettes This is the correct response. In addition to neuroblastoma, other tumors associated with small blue cells include Ewing’s sarcoma and medulloblastoma, both of which tumors are seen in children |
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A 19-year-old female in her 38th week of pregnancy goes into active labor. Shortly after birth her baby is noted to have a high-pitched cry, tremulousness, hypertonicity, and feeding difficulties. The baby is otherwise developmentally normal and the remainder of the physical exam also is normal. What is the drug the baby's mother likely used during her pregnancy?
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Heroin is the correct choice. Opiate use during pregnancy may result in several different symptoms, including CNS findings (irritability, hyperactivity, hypertonicity, incessant high-pitched cry, tremors, seizures), GI symptoms (vomiting, diarrhea, weight loss, poor feeding, incessant hunger, excessive salivation), and respiratory findings (including nasal stuffiness, sneezing, and yawning).
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A 19-year-old G1P0 presents in labor to the ED at 38 gestational weeks. On interview it is discovered that the patient had irregular prenatal care, drank a couple of beers every weekend, and smoked 4 cigarettes a day. She delivers a baby boy who is small for gestational age. On exam, it is noted the baby has microcephaly, a smooth philtrum, and a thin upper lip. What do you suspect caused these features in the baby?
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Alcohol
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A mother brings her 20-day-old male infant to your clinic for the child’s first visit. You learn that the infant was born at home to a 28-year-old G1P1, and the infant has not yet received newborn screening. During your history, you learn that the infant has been vomiting 2 to 3 times per day, and the mother reports that her son seems fussier than her friends’ infants. On exam, you note an eczematous rash and a musty odor to the infant’s skin and urine. Which enzyme deficiency would you expect the infant to display?
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Phenylalanine hydroxylase (PKU), an autosomal recessive disorder of amino acid metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Affected infants are normally detected by newborn screening, but can present with vomiting, hypotonia, musty odor, developmental delay, and decreased pigmentation of the hair and eyes. The best developmental outcomes occur if a phenylalanine-restricted diet is initiated in infancy. |
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You are seeing a 36-month-old boy for his well-child visit. His parents are anxious about ensuring that his development is appropriate. He passed a hearing screen at birth and, other than a few colds, has been generally healthy. He has never been hospitalized or had any serious illness. He is able to run well, walk up stairs, and walk slowly down stairs. He uses more words than the parents are able to count, but can use them only in short, two or three-word sentences. His speech is understandable. He can draw a circle, but not a cross. Neurologic examination shows normal cranial nerves, normal sensitivity, normal motor reflexes, and no Babinski sign. Which of the following is the most appropriate next step in the management of this patient?
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Normal development
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Sammy is a healthy male child brought into your office by his mother for a well-child examination. As part of your evaluation you assess his developmental milestones. He is able to run, make a tower of 2 cubes, has 6 words in his vocabulary, and can remove his own garments. What would you estimate Sammy’s age to be based upon his developmental milestones?
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18 Months
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stoop and recover and walk well, put a block in a cup, have a vocabulary of a few words, wave bye-bye, and drink from a cup.
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15 months
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Mark is a 5-month-old male who is brought to the urgent care clinic with a three-day history of rhinorrhea and non-productive cough. When he was born he was large for gestational age, and his exam then was notable for macrocephaly, macroglossia, and hypospadias. On physical exam now his vitals signs are stable. He has copious nasal discharge, but his lungs are clear to auscultation. On abdominal exam, you palpate an abdominal mass on the right side just below the subcostal margin. It is 7 cm in diameter and does not cross the midline. The abdomen is soft and non-tender with active bowel sounds. What is the most likely cause of his mass?
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Wilms tumor. commonly associated with Beckwith-Wiedemann syndrome, a genetic overgrowth syndrome. Other features that may be seen in children with this syndrome include omphalocele, hemihypertrophy, hypoglycemia, large for gestational age, and other dysmorphic features. |
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An asymptomatic, healthy 9-month-old female is found to have a palpable RUQ mass on exam. After further imaging and lab studies, the mass is diagnosed as a neuroblastoma that has involvement in the bone marrow as well. The mother is worried about the prognosis. Which of the following is true about the prognosis of neuroblastoma in this child?
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Non-amplification of the n-myc gene is one of the favorable genetics in neuroblastoma. Aka amplification of n-myc makes it worse prognosis |
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A 9-month old baby boy comes to the clinic for a well child visit. The child is at the 50th percentile for weight, length, and head circumference. He is reaching all developmental milestones appropriately. The mother has no concerns at this visit. The child has previously received the following vaccines: 3 doses of DTaP, 3 doses of Hib, 2 doses of HepB, 3 doses of RotaV, 2 doses of IPV and 3 doses of PCV13, and no influenza vaccines. Which vaccines should the child receive at today’s visit?
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Influenza, Hep B, IPV is correct. The patient needs a third Hep B, a third IPV, and a yearly flu shot starting at 6 months of age.
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A 3-year-old boy presents for a follow-up visit after being diagnosed with iron deficiency anemia. He is currently receiving oral iron supplements, 2 mg/kg of elemental iron daily. He has a dietary history of eating mostly sweet, bland, low-texture foods. What strategies may be used to improve his diet?
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Gradually introduce new foods and slowly decrease his old favorites This choice is correct, because gradually introducing new foods and slowly decreasing his old foods will likely ease the transition to healthier diet choices and encourage long-term adjustment. |
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A 2-year-old girl is examined as an outpatient. While waiting for the pediatrician, her mother reads her a short book. When they are done, her mother asks her to take the book and return it to a bookshelf in the room. The child is not able to hold a pencil and cannot write her name. She can kick and throw a ball, but cannot jump in place. Which of the following best describes this child’s development?
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Age-appropriate development
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At a routine well-child visit, the frantic mother of your 4-year-old male patient states that she thinks her son has some developmental delays based on what she hears from other parents. Although he knows how to do such things as throw a ball and copy a circle, he cannot brush his teeth on his own, tie his shoes, or hop on one foot. According to the AAP’s Bright Futures, which of the following are development milestones for typical 4-year-olds?
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A a normally developing 4-year-old should be able to hop on 1 foot, copy a cross, pour/cut/mash their own food, and brush teeth.
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3-year-old boy described by his mother as a picky eater comes in for a regularly scheduled well-child visit. His mother complains that he has had less energy than usual for the past few months. There is a high clinical suspicion he is anemic. What is the most likely cause of anemia in this patient?
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The most likely cause of anemia in the question is picky eating, which can result in insufficient iron intake. Low iron intake causes a microcytic anemia. A girl with menometrorrhagia would present with iron deficiency, and her MCV also would be indicative of microcytic anemia.
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A 5-year-old girl comes into your office for a well-child visit. The mother says that child is overall very healthy, but she highlights “occasional colds” and recently more frequent temper tantrums. She does well in preschool, is toilet trained, and enjoys eating mostly pasta, bread, and milk. She lives with her mother and father in a home built in 1985. Lab studies were significant for a mild anemia with a hemoglobin of 10.0 g/dL. You note that her hemoglobin was in the normal range at her 3-year-old visit. Which of the following is the most likely cause of her anemia?
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Iron Deficiency Treatment would include oral iron supplementation and increased dietary iron intake. |
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An 8-year-old boy is brought to clinic by his parents because they are concerned that he has not been doing his homework. His teacher recently called the parents to say that their son seems distracted in class, constantly interrupts other children when they are speaking, and is very fidgety. When you speak with the boy, he tells you that he did not know about the homework assignments and that he tries hard to pay attention in class. What is the next best step in management?
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ontacting the teacher to find out more about the child's behavior at school and learning more about his behavior at home are the best ways to determine if 6 of the symptoms are present in 2 or more settings, which is required to make the diagnosis of ADHD. It also will be important to learn more about other aspects of this child’s life, as there are several factors that can lead to acting out (including learning disability, hearing disability, family stress, and abuse).
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8-year-old healthy obese African American male with no past medical history is found to have a blood pressure of 125/90 mmHg on all four extremities on routine evaluation during an office visit for well-child care. Review of symptoms is negative. A physical exam and screening bloodwork are performed. Both are normal, with the exception of his blood pressure and obesity. What is the most likely diagnosis?
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Primary Hypertension. the sole physical finding is hypertension. Given the mild hypertension and the patient’s age, symptoms are unlikely to be present. Other etiologies should be ruled out, but review of symptoms, physical examination, and laboratory studies do not suggest other etiologies.
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Billy, a 7-year-old boy, presents to the clinic with complaints of headaches and episodes of feeling sweaty and flushed. He also reports that at times he feels as if his heart is racing. Billy was full term, had an uncomplicated birth, and has been otherwise healthy until now. On exam his BP is 120/80 mmHg and is the same in his upper and lower extremities. His weight and height are in the 50th percentile for his age. What is a likely cause of Billy’s hypertension?
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Catecholamine excess (pheochromocytoma or neuroblastoma) should be suspected in a child who is hypertensive and has episodes of sudden sweating, flushing, or feels that his heart is racing. Billy is exhibiting these signs and a urine catecholamine testing would be appropriate in this case.
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Jane is an 8-year-old girl who presents to your clinic for follow-up after being hospitalized for status asthmaticus. She has just completed a 10-day course of systemic steroids. Given her history of moderate persistent asthma, her outpatient regimen includes Advair, a combined steroid and bronchodilator. She was also diagnosed with ADHD one year ago and was started on Concerta, 18 gm PO once a day. Her BMI today is at the 83rd percentile for her age, and her blood pressure is at the 98th percentile for her age. What is the most likely cause of her stage I hypertension?
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Both steroids and amphetamines can cause increases in blood pressure, especially when used in combination. Steroids increase blood pressure by mimicking endogenous cortisol and the sympathetic fight or flight response. Amphetamines mimic norepinephrine, stimulating alpha and beta adrenergic receptors, causing an overall increase in blood pressure.
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George is a 7-year-old boy frequently in trouble at school for being disruptive and inappropriately talkative in class, not following directions set by his teacher, and not working well with classmates during group activities. His mother relates that at home George is always on the go, sleeping only 6 to 7 hours a night. He does not follow her rules all the time either, including not doing his homework, and sometimes putting himself in danger by doing things she tells him not to do, such as running away unaccompanied. Which of the following is the most likely diagnosis?
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ADHD is characterized by the triad of impulsivity, hyperactivity, and inattention. Other symptoms include motor impairment and emotional labiality. ADHD is typically diagnosed before the age of 7 but persists into adulthood. Intelligence is usually normal, but individuals with ADHD commonly perform more poorly academically than would be expected for their IQ. |
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A 15-year-old female comes to the clinic with a chief complaint of feeling tired for one month. She has also been complaining of frequent nosebleeds while at school and bruising easily. When further history is elicited, you find out that menarche was at the age of 9 and her periods have always been heavy and irregular. Her mother and grandmother also have histories of heavy periods and easy bruising. You suspect a bleeding disorder and send off some labs including a CBC, INR, PT, PTT, and a von Willebrand panel to confirm your diagnosis. Your suspicion was correct for the most common type of bleeding disorder. How is this bleeding disorder most commonly inherited?
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Autosomal dominant (AD) inheritance is the correct choice. In AD disorders males and females are equally affected within each generation. These include conditions such as von Willebrand’s disease, Marfan syndrome, neurofibromatosis, and Huntington’s disease.
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A 14-year-old girl presents to your office wondering why she has not had her period yet. Her mother states that she and the patient’s grandmother reached menarche at 13 years of age. The patient is concerned she is behind her friends in terms of development. She is doing well in school and has not had developmental problems in the past. On physical examination, her breasts are elevated without a secondary mound, and curly, coarse pubic hair is present on the labia majora in a triangular shape but does not reach the mons pubis. What Tanner stage would you assign this patient?
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The patient in the vignette is at Tanner Stage III of development. Her breast buds are elevated but do not have the secondary mound characteristic of Tanner Stage IV. Her pubic hair distribution extends more laterally than Stage II but is not adult-like in hair quality and does not extend onto the mons pubis.
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Tanner Stage IV female
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In Tanner Stage IV, breasts are increased in size and elevation and the areola and papilla form a secondary mound that projects from the contour of the rest of the breast, and the pubic hair extends across the mons pubis and spares the medial thighs.
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Tanner Stage I Female
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Tanner Stage I breast development consists of no glandular tissue and is prepubertal. Tanner Stage I consists of no pubic hair at all. This is usually around age 10 or younger.
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Tanner Stage V female
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In Tanner Stage V, breasts reach their adult size and the areola returns to the contour of the surrounding breast while the central papilla remains projecting and the pubic hair extends to the medial surface of the thighs.
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Tanner Stage II Female
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Tanner Stage II breast development occurs when breast buds form and the areola begins to widen. A small amount of long, downy hair with slight pigmentation appears on the labia majora. This patient’s elevated breast buds and pubic hair distribution puts her beyond Tanner Stage II
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A 16-year-old female presents to clinic complaining of worsening fatigue. Family history is significant for hypothyroidism and heavy periods in the grandmother. Her exam reveals mild tachycardia and oozing around a recent piercing, but is otherwise normal. Labs reveal Hgb 8.5 g/dL, MCV 58, PT 12.5, PTT 44, and low von Willebrand factor activity. Which of the following is the most appropriate treatment for her underlying disorder?
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desmopressin Von Willebrand’s disease is the underlying cause of this patient's anemia, as indicated by the low von Willebrand factor activity. This is the most common hereditary bleeding disorder, occurring in roughly 1% of the population. Intranasal or intravenous desmopressin is appropriate treatment for most bleeding problems. Desmopressin works by causing release of von Willebrand’s factor from vessel endothelial cells. |
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When is Factor VIII concentrate used for treatment of vWD?
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Factor VIII concentrate may be used as a treatment for von Willebrand’s disease in the setting of major trauma or surgery. It also may be used for less common subtypes of the disease that do not respond to desmopressin. However, most cases of von Willebrand’s disease can be treated with desmopressin
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A 10-year-old female comes to the clinic for a well child exam. Her mom asks about puberty and wants to know in what order she should expect to see normal developmental changes in her daughter. Which of the following sequences is correct?
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breast bud -> pubic hair -> growth spurt -> menarche breast buds are the first sign (10–11 years), followed by pubic hair (10–11 years), then a growth spurt (12 years), and then menarche (12–13 years). Most girls reach adult height by approximately 15 years. |
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Frank is 16-year-old male brought in by his mother who complains that her son “looks much younger than his age.” She states that until about four years ago, she did not notice much difference between Frank and his friends. However, in the past two years, Frank has become the shortest person in his class. Frank's mother is concerned that he has a “hormone problem” and wants to know how she can tell if he has begun puberty. What is usually the first sign of puberty in a male?
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The first sign of puberty in a boy is testicular enlargement. The onset of puberty is quite variable, but usually occurs between 10 and 15 years for boys. It is rare for boys not to have begun puberty by the age of 16. To assess whether or not a male has entered puberty, one must know the order of the appearance of secondary sexual characteristics.
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John is a 17-year-old presenting today for a pre-participation physical exam. During the interview, he reports a low-grade fever, malaise, and headache for one week. In the past few days, his fever has gotten worse and he complains of a sore throat. He denies cough or chest pain. On physical examination, he is found to have a temperature of 101.3° F, and cervical lymphadenopathy and oropharyngeal erythema with exudate are noted.How do you diagnose his condition?
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EBV serologies. because the patient’s symptoms are suggestive of infectious mononucleosis. These include complaints of low-grade fever and malaise and findings of cervical lymphadenopathy and pharyngeal exudate. If testing is positive, the patient should be restricted from strenuous activity or contact sports during his illness due to the risk of splenic rupture. |
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A 17-year-old boy presents for a sports pre-participation physical. He reports that he occasionally gets short of breath and feels light-headed with exercise, and sometimes he experiences chest pain as well. He lost consciousness once last season during a playoff basketball game, but attributed it to feeling sick at the time. His grandfather died suddenly at age 35 of unknown etiology. What is the most likely cause?
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Prolonged QT syndrome can cause syncopal episodes in late childhood or adolescence. QT intervals are elongated on ECG and lead to arrhythmias, like ventricular fibrillation. This condition is often associated with other abnormalities, including severe congenital sensorineural deafness.
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A 16-year-old male presents to your office requesting clearance to play football. You begin by taking his medical history. He says that he feels very well, but admits that he recently experienced one episode of syncope that occurred when he trained really hard for football tryouts with his friends. He denies any shortness of breath, or chest pain currently. Family history is significant for an uncle who died of heat stroke at the age of 30 while playing basketball. Physical examination reveals no abnormalities. What is the next best step in management?
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ECG and referral to cardiology Referral to cardiology is the absolute next best step! The combination of syncope with exertion and a family history of a young death is concerning for something like hypertrophic cardiomyopathy. Don’t be fooled about heat stroke. That is a positive family history for sudden death in a young person. This patient must be evaluated by cardiology, even if you don’t hear a cardiac murmur! |
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A 16-year-old previously healthy male comes to the Pediatrics Urgent Care Clinic having “almost fainted” at soccer practice. He says that he had not eaten much earlier in the day and it was very hot and muggy outside. He felt light-headed and sick to his stomach. He denies losing consciousness and did not fall to the ground. He denies any chest pain. When you examine him, his eyes are sunken and he is tachycardic. What would be your next step in his management?
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Give Fluids and recheck his vitals The patient is likely dehydrated given the dizziness without loss of consciousness in the setting of poor PO intake, hot weather and exercise. As the symptoms occurred while he was upright, the likely mechanism is vasovagal. His sunken eyes and tachycardia are signs of moderate to severe dehydration. Since this is a clinical diagnosis, fluids should be given with subsequent rechecking of heart rate and blood pressure to confirm the diagnosis. |
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Claire is a 16-year-old female who presents for birth control management. Her review of symptoms is unremarkable except for chest pain. When you ask her more questions, she reveals the pains are intermittent, on and off for the past couple months. It is not associated with exertion, sharp, and well localized at the left sternal border. It is very brief, lasting only a few seconds, during which she says she sometimes notices it gets worse when she breathes in. She denies recent URI or viral illness. The family history is negative for early cardiac disease. Her vital signs and physical exam are normal. Which is the next best step in management?
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Based on the history, and assuming your physical exam is unremarkable, this sounds most suggestive of precordial catch syndrome, the most common cause of chest pain in an adolescent. No further workup is needed.
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Adam is a 2-hour-old infant born at 32 weeks' gestational age via NSVD to a healthy mother with negative group B streptococcus status. There was no premature rupture of membranes and no meconium in the amniotic fluid. His Apgars were 8 at one minute and 9 at five minutes. Over the last two hours he has become progressively tachypneic. On physical examination he is large for gestational age. His vital signs are respiratory rate 75, temperature 36.5 C and heart rate is 130 beats per minute. His lung exam is remarkable for intercostal and subcostal retractions, grunting, and equal breath sounds. His heart exam reveals normal rhythm, normal S1 and S2, no murmurs, and normal peripheral pulses and capillary refill. Which of the following is the most likely cause of the patient’s condition?
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Respiratory distress syndrome (RDS) causes tachypnea and is therefore an important consideration in this case. RDS is more common in premature infants. Given the lack of history of maternal diabetes, an NSVD birth, and few risk factors for sepsis other than prematurity, Adam is likely to have RDS.
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What respiratory difficulty is most common in infants of diabetic mothers?
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Transient tachypnea of the newborn (TTN) is much more common in infants born to diabetic mothers.
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3-hour-old infant boy, born by C-section at 36 weeks to a 30-year-old G1P1 with Apgars of 8 and 9 at 1 and 5 minutes, respectively, is found to be tachypneic in the newborn nursery. His mother has a history of Type II diabetes that was poorly controlled during her pregnancy. She was compliant with prenatal vitamins and took no other drugs during her pregnancy. Prenatal labs, including GBS, were negative. The mother’s membranes ruptured 9 hours prior to delivery, she was afebrile, and the amniotic fluid had no meconium. On physical exam, the infant is large for gestational age. He has good air movement through the lungs bilaterally, without retractions or nasal flaring. He appears well perfused with normal cardiac exam. He is not in a flexed posture and has a weak suck reflex. Screening tests reveal blood glucose of 44 mg/dL. What is the most likely diagnosis?
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Hypoglycemia is a common presentation in an infant born to a diabetic mother with poor glucose control during her pregnancy. The increase in maternal serum glucose stimulates fetal pancreatic beta cells to increase insulin production, and this hyperinsulinemic state leads to hypoglycemia when the placental glucose supply is discontinued after delivery. A glucometer reading of < 35 mg/dL without symptoms or < 45 mg/dL with symptoms would confirm the diagnosis. This infant has signs of hypotonia, with absence of flexed posture and weak suck, and a blood glucose reading of 44 mg/dL, making hypoglycemia the most likely diagnosis.
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MCC of neonatal sepsis?
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Neonatal sepsis is most commonly caused by GBS, Listeria and E. coli, transmitted from mother to baby. Additional risk factors include premature rupture of membranes (> 18 hours prior to delivery), preterm delivery, and chorioamnionitis. Infants may present with fever, trouble breathing, jaundice, and lethargy
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male infant weighing 3200 grams is born to a G1P1 female at 39 weeks gestational age via planned C-section. Maternal PMH is unremarkable, and GBS status is unknown. Apgars are 7 and 8 at 1 and 5 minutes of life, respectively. The delivery is uncomplicated, and the infant initially appeared in good condition. However, one hour following delivery the infant develops increasing respiratory distress. RR is assessed as 90 bpm. All other vital signs are within normal limits. On exam, the infant is acyanotic with rapid respirations and robust capillary refill. Chest x-ray shows bilateral lung fields with the appearance of “a radio-opaque line of fluid in the horizontal fissure of the right lung." No air bronchograms are noted. What is the most likely etiology of the infant’s respiratory distress?
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Transient tachypnea of the newborn (TTN) is the most likely underlying etiology. This condition is caused by residual fluid in the infant’s lungs following delivery, and usually resolves within several days. It is more common in babies delivered via C-section, as the normal mechanical force of labor that helps expel fluid from the lungs is lacking. Babies with TTN and other forms of respiratory distress are often unable to nurse and require feeding via NG tube until respiratory status stabilizes.
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Adam is a newborn male who was just born to a G2P1 mother at 36.2 weeks' gestation via a vaginal delivery. The mother reports that she did not receive prenatal care because she did not have insurance. She says that she thinks her “water broke” about two days ago, but she did not have any contractions after that, so she decided not to come to the hospital. She did not start having contractions until 19 hours before she delivered. After delivery, Adam did not cry vigorously, was tachypneic, cyanotic, and febrile to 100.5 F. Amniotic fluid did not contain meconium. His chest x-ray is normal. Given Adam’s birth history, what is the most likely cause of his symptoms?
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Sepsis 2nd to prolonged rupture of membranes. Prolonged rupture of membranes (PROM) is when the chorioamniotic membrane ruptures before the onset of labor. The main risks associated with PROM are preterm labor and delivery and neonatal sepsis. Adam’s mom said that her “water broke” two days ago, which indicates that she had PROM. Adam’s mother also did not receive prenatal care; therefore, she did not receive any of the prenatal screening tests that she should have, which increases the likelihood that she has an infection that could have potentially been transferred to Adam after the rupture of her membranes. Adam’s history of PROM along with his fever and respiratory distress make this answer choice the best choice. |
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A newborn baby boy is born at 30 5/7 weeks' gestation after induction of labor for the severe maternal preeclampsia. He is noted to have subcostal and intercostal retractions, grunting, nasal flaring, persistent cyanosis, and tachypnea 30 minutes after delivery. Apgars were 6 (–2 for color, –1 for breathing and –1 for tone) and 7 (–2 for color and –1 for breathing) at 1 and 5 minutes, respectively. Due to lack of prenatal care and the mother’s presentation with severe preeclampsia, betamethasone x 1 was given during induction, but she did not receive a second dose prior to delivery. A chest x-ray is obtained, which reveals diffuse ground-glass appearance and air bronchograms bilaterally. What is the most likely diagnosis?
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Respiratory Distress Syndrome. The baby boy is preterm, and his mother received only one dose of betamethasone, which puts him at increased risk for developing infant RDS, which is caused by insufficient surfactant. His physical exam and chest x-ray findings are consistent with RDS. |
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A 4-day-old baby boy presents for his first pediatric well child visit. His birth history consists of an uncomplicated normal spontaneous vaginal delivery after 7 hours of labor—no vacuum or forceps assistance were used. The patient is the first child to a 30-year-old mother of Mediterranean descent. Mom is very concerned that her baby has started to look “yellow” since leaving the hospital. She has been breastfeeding every 2–3 hours and says that the baby latches on for 1–5 minutes for each feed. He has had few wet diapers, and mom is concerned he is not getting enough to eat. Which of the following would most aid in narrowing the differential diagnoses?
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Fractionated Bilirubin With the knowledge of the total serum bilirubin (TSB) and direct serum bilirubin, one will be able not onlyto narrow the differential (hemolysis vs. obstruction), but also to guide treatment (i.e., indirect serum bilirubin may be above phototherapy level). TSB can also indicate if the situation requires more drastic measures, such as a transfusion exchange. |
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A concerned mother brings her 7-day-old son to your office after noticing yellowing of his skin for 2 days. She has also noticed he has not been gaining weight since she brought him home from the hospital 5 days ago. This is her first son and she has been trying to do everything perfectly, including breastfeeding him, since she was told that breast milk provides adequate nutrients and other healthy benefits, like antibodies and growth factors. However, upon further questioning, she is feeding him only 6 times a day for 10 minutes each time. She admits her breasts often feel full and are not relieved by nursing. He was born full term by spontaneous vaginal delivery but had a hard time sucking with breastfeeding. Upon exam, he looks dehydrated and appears to have jaundice of the face and chest. He has also lost > 10% of his birth weight. What could be the cause of his jaundice?
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Breastfeeding jaundice is the correct answer because it usually appears early in the first week of life and is caused by various factors, including poor breast milk intake. A decreased milk supply leads to limited enteral intake and can lead to increased enterohepatic circulation. Increased enterohepatic circulation describes the process where unconjugated bilirubin is reabsorbed in to the bloodstream where it binds to albumin and is recirculated.
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A 5-day-old infant presents with a chief complaint of jaundice. As you obtain a careful history and physical examination, What could be risk factors for this condition??
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Mediterranean origin (higher risks of hereditary diseases that can cause jaundice. Glucose-6-phosphate dehydrogenase (G6PD) deficiency and the thalassemias are more common in Mediterranean families) Prolonged labor & forceps use during delivery (cephalohematomas, or hemorrhage of blood between the skull and the periosteum. These result from the rupture of blood vessels crossing the periosteum, usually caused by a prolonged second stage of labor or the use of forceps or other instrumentation during delivery. As the cephalohematoma resolves over weeks and the blood is reabsorbed, the breakdown of RBCs from the hematoma can result in increased bilirubin levels.) Mother is type O+ and baby is type B (BO compatibility is a common cause of hemolysis in newborns. Since the mother has blood type O, she makes IgG antibodies to A-antigens and to B-antigens, leading to hemolysis of the fetal red blood cells. This can be detected by a positive direct Coombs test.) Poor breast feeding ( decreased enteral intake may result in breastfeeding jaundice. This may be caused by the mother who does not make enough milk, or by the infant with inadequate feeding or intake. Decreased intake leads to decreased motility of the GI tract and retention of meconium. The meconium contains β-glucuronidase, which hydrolyzes the conjugated bilirubin to an unconjugated form, which is reabsorbed and re-circulated into the blood through the enterohepatic circulation, increasing bilirubin levels in the blood.) |
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A 3-week-old baby boy is brought to his pediatrician with a chief complaint of light tan–colored stools and worsening jaundice. His is exclusively breastfed and has 6–8 wet diapers per day. On exam, he appears to have scleral icterus and jaundice. Upon further workup, he is found to have an elevated direct bilirubin. What is his most likely diagnosis?
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Biliary atresia can present anytime between birth and 8 weeks of age, but usually occurs after 2 weeks of age. Jaundice is usually the first presenting finding, along with acholic stools, dark urine (from increased bilirubin excretion) and hepatosplenomegaly if the problem goes unrecognized. Laboratory values classically show an increased level of direct or conjugated bilirubin > 2 mg/dL. If biliary atresia is confirmed with further laboratory testing and imaging, surgical intervention must be pursued as soon as possible.
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Caput succedaneum
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Caput succedaneum is caused by an increase in serum above the periosteum of an infant that crosses suture lines (as opposed to cephalohematoma which does not cross suture lines). The increased serum bilirubin does not usually lead to significant hyperbilirubinemia.
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A two-month-old female presents to clinic for a well-baby checkup. Mom has been happy because the “baby rarely cries and sleeps all the time.” On exam, the baby has yellowing of the skin, decreased activity, appears to have decreased tone, and a large anterior fontanel. What is the most likely diagnosis?
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Congenital Hypothyroidism Congenital hypothyroidism may not be clinically evident until 6 weeks of age due to circulating maternal thyroid hormone transmitted from the placenta. Signs and symptoms of congenital hypothyroidism include feeding problems, large fontanels, hypotonia, large tongue, coarse cry, and frequently an umbilical hernia. Congenital hypothyroidism should be picked up on routine neonatal screening. |
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Jade is a 2-week-old female who was born at home and received no newborn screenings for congenital disease. Her mother brought her to the pediatrician's office concerned that her daughter appeared to be jaundiced and was constipated, tired, and not feeding well most of the time. Physical exam was notable for enlarged fontanels, jaundice without bruising, hypotonia without tremor or clonus, and an umbilical hernia. There was no sign of virilization, no abnormal facies, and no history of vomiting. Review of systems was otherwise negative except as stated above. Which of the following is the most important next step in Jade's management?
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Consult with pediatric endocrinologist and start treatment with 10 to 15 mcg/kg/day of crushed levothyroxine in liquid, and follow up every 12 months American Academy of Pediatrics recommends this treatment regimen for infants age 0 to 6 months old. Dosing is based upon age and weight. It would also be important to consult with a pediatric endocrinologist to evaluate the short and long-term treatment plan. In addition, the specialist could also recommend screening for other autoimmune disorders. |
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A 6-week-old infant girl whose family recently immigrated from Mexico is brought to clinic for “excessive sleepiness.” The mother states the infant is not easily aroused for feedings and is not as active as she was previously. She is also concerned about her daughter's large “outtie" belly button. On exam, the patient is afebrile and jaundiced, with a puffy myxedematous face. The fontanels are large but flat. There is a large umbilical hernia. When asked about the results of a newborn screening exam, mom states that the screening was never performed. What would be an expected abnormal lab value(s) associated with her condition?
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High TSH, low T4 Congenital hypothyroidism may present with poor feeding, constipation, jaundice (longer and more persistent than physiologic jaundice of newborn), mottled skin, large fontanels, hypotonia, hypothermia and an umbilical hernia. Later findings include a hoarse cry, macroglossia, and myxedematous facies. Patients usually remain asymptomatic until after 6 weeks of age, as maternal thyroid hormones may still be in younger infants. Patients with primary hypothyroidism will have high TSH and low T4 levels. The most common cause of primary hypothyroidism will be aplasia or hypoplasia of the thyroid gland, and—much less commonly—inborn errors of metabolism. Secondary or tertiary hypothyroidism (HPA dysfunction) will have both low TSH and low T4, and are relatively rare causes of hypothyroidism in infants. |
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A 45-day-old infant is brought in by his mother due to lethargy, constipation, and yellow skin color noted since birth. The mother and the baby moved to the U.S. from a foreign country that does not screen its newborns. The baby has been fed only formula since birth. Physical exam of the neonate reveals additional findings of large fontanelles, umbilical hernia, a large tongue, and abdominal distension. What is the next best step in diagnosis?
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TSH severe mental retardation is unavoidable at this point because this condition should have been treated since birth. In the U.S., it would have been detected on the newborn screen. |
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The parents of 5-month-old Tiffany are concerned about Tiffany’s decreasing oral intake over the past 4 days. They report that she has been sleeping more but seems to tire out when feeding; in fact, mom’s breasts have become quite engorged and she needs to pump to relieve the pressure. In addition to the sleepiness and poor feeding they report that she has not had a bowel movement in 3 days. She has no fever or respiratory symptoms. You note a weak cry on your exam, and a floppy baby when you try to sit her up. What additional finding are you likely to find on your exam?
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Absent Deep tendon reflexes. This infant likely has infant botulism which usually presents in the first year of life with hypotonia, lethargy, constipation, weak cry and can eventually lead to respiratory failure. These infants will have absent DTRs. |
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You are called down to the nursery to evaluate a newborn girl who is ready to be discharged. The mom is concerned because this 3-day-old has become lethargic and doesn’t want to feed. She has vomited twice and is showing no interest in feeding. On physical exam you note a lethargic infant with an enlarged liver and worry about an inborn error of metabolism. Which test would be diagnostic for an ornithine transcarbamylase (OTC)deficiency?
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Hyperammonemia and elevated urine orotic acid an x-linked condition, the most common urea cycle disorder. |
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A 6-month-old infant arrives in the ED with a 12-hour history of poor feeding, emesis, and irritability. On exam, she is ill-appearing with T 39.2 C, P 160 bpm, R 40 bpm, BP 80/50 mmHg. CBC shows WBC 11.2, Hgb 13.5, Plt 250. Urinalysis shows > 100 WBC per hpf, positive leukocyte esterase, and positive nitrites. She has no history of prior urinary tract infection. Chest x-ray is negative. Urine and blood cultures are pending. After bringing her fever down, she was still uninterested in drinking, but her exam improved, and you were confident she did not have meningitis, so an LP was not performed. Which of the following is the best next step in management?
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IV ceftriaxone This patient’s presentation is suggestive of a UTI. Given the ill appearance, vital signs, and white count, Upper tract disease (pyelonephritis) should be strongly considered. A parenteral (IV/IM) third-generation cephalosporin is the best choice of those listed for pyelonephritis, given its excellent gram negative coverage (except for Pseudomonas). |
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A 3-month-old male presents to the ED with a fever that started the previous day. Mother reports that he was fussy and had decreased oral intake. He had had five fewer diaper changes than usual. He had no vomiting, diarrhea, or respiratory difficulty. On physical exam his temperature is 101.6 F, pulse 110 bpm, RR 24 bpm, and BP 95/67 mmHg. The baby seems irritable and is not consolable by the parent. HEENT exam was significant for dry mucous membranes. Other than his irritability, the rest of the physical exam was unremarkable. CBC showed WBC 3.5, but was otherwise normal. BMP was within normal limits. Urinalysis showed positive leukocyte esterase, positive nitrite, and WBCs > 10/hpf. An LP was performed, and urine and CSF culture results are pending. The patient is placed on IV fluids and is started on cefotaxime. What is the next best step in evaluation?
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Renal Bladder Ultrasound. This infant has a fever without other respiratory symptoms. Meningitis and UTI must be considered in patients with fever. The only way to rule out meningitis is by lumbar puncture. This patient has a low WBC, suspicious for sepsis, and a UA that is highly suggestive of UTI. Empiric therapy should be started to cover common organisms including E.coli, P. mirabilis, and Klebsiella. Cefotaxime is reasonable empiric therapy. Renal ultrasound is recommended for all infants with pyelonephritis to assess for renal structural abnormalities or signs of obstructive uropathy (hydronephrosis). |
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A 10-day-old boy is brought to the ED by his mother because of “fever.” Mom describes that the baby has been “sleepy” and feeding less vigorously than in the previous two days. She believes his urine output has also decreased. His birth history is notable for prolonged membrane rupture (about 32 hours), and maternal fever at the time of delivery. Prenatal and neonatal ultrasound revealed bilateral hydronephrosis. On exam, the infant is sleepy with a temperature of 38.5 C. A blood sample is sent for CBC, BMP, and culture. Attempts are made to obtain CSF and urine for analysis and culture, but only very small volumes of these fluids are obtained. Volume resuscitation is begun. Chest x-ray is performed with indeterminate results. What is the most appropriate next step?
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Send samples for culture and begin parenteral antiobiotic treatment Given the presentation of fever in a neonate who presents with sleepiness and poor feeding, samples should be sent for culture and the baby started on empiric antimicrobial therapy. This infant is likely to have a urinary tract infection, and urosepsis is certainly a possibility, especially given his known urinary tract anoamlies. We have no way of ruling out meningitis from this presentation, so antibiotics should be initiated at meningitic dosing. In an infant younger than one month, fever with any suspicion of sepsis, whatever the source, requires immediate evaluation and initiation of antibiotic treatment. Because infants at this age have immature immune systems, they do not localize infections as well as older children. An infection of the urinary tract may lead to bacteremia, which in turn may lead to CNS infection. Only cultures will give us the information required to determine the appropriate type length of antimicrobial therapy. |
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A 6-month-old female is brought into the pediatrician’s office for three days of high fever, fussiness, and decreased appetite. The patient has not had any upper respiratory tract symptoms, vomiting, diarrhea, or rash. On physical exam the patient is fussy, has a RR of 28 bpm and a pulse of 160 bpm. She is febrile to 102.8 F (rectal). The patient is alert and fully moving all extremities. Apart from her vital signs, no other significant exam findings are noted. A CBC demonstrates leukocytosis of 17.0 cells x 103 / µL with elevated bands. What diagnosis is most likely?
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UTI, the most common bacterial illness in a female infant, is consistent with her high fever, fussiness, and decreased appetite. Her CBC suggests that she has a bacterial infection (leukocytosis and elevated bands). A sample of her urine should be obtained by catheterization and sent for urinalysis and culture.
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A 6-month-old female with normal birth and developmental history presents with fever for the past two days, fussiness, and decreased appetite. ROS is negative. No abnormalities are noted on the physical examination. A urinalysis from a bag specimen is positive for leukocytes and nitrite, which suggests the presence of a UTI; a culture from this sample is pending. The patient is ill-appearing, dehydrated, and unable to retain oral intake. She is hospitalized, receives a 20 cc/kg NS bolus and is placed on maintenance IV fluids with clinical improvement. What is the best next step for management of this patient?
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Urinary catheterization is correct . It is the best method for obtaining a specimen for culture that has not been contaminated by perineal bacteria, and for this ill child, you must determine the cause of the fever with accuracy.
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A 5-year-old female, previously healthy, presents with an erythematous, vesicular rash on the palms and soles and a high fever for several days. Upon examination, she is also found to have ulcers in her mouth. A few days later, the fever and rash resolve. What is the most likely pathogen?
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Coxsackie A, This presentation is consistent with infection by cocksackie A, an enterovirus. Following an incubation period of three to five days, patients have fever, tender vesicles on their hands and feet, and oral ulcers. Sometimes the rash also occurs on the buttocks and the genitals. The infection resolves spontaneously within three days, and is spread from person to person via saliva, fluid from the vesicles, stool, or nasal discharge. |
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A 2-year-old girl presents to the urgent care clinic with a 7-day history of high fever to 38.5 C, a maculopapular rash that began on the palms and soles of her feet, red eyes without discharge, and unilateral cervical adenopathy. What other symptom/sign might you discover on further history and exam?
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Erythematous and edematous feet he constellation of symptoms described suggests Kawasaki disease. The other two classic signs not mentioned are erythematous tongue (“strawberry tongue”), and erythema/edema of the extremities, |
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A 3-year-old male presents with fever to 103 F for the past week, injected eyes, and a refusal to walk for the past two days. On physical exam, you note conjunctival injection without pus or exudates bilaterally, prominent papillae of his tongue with redness as well as redness of his hands, and feet. He also has a new non-diffuse maculopapular rash on his torso that gets worse with fever. On examination of the swollen extremities, you are unable to elicit any tenderness or effusions in any joints. Which of the following is the most likely diagnosis?
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Kawasaki disease (KD) is one of the most common vasculitides of childhood. For diagnosis, in addition to fever of > 5 days, patient must meet four of the following criteria: rash, conjunctivitis, unilateral cervical lymphadenopathy, changes in oral mucosa, or extremity changes (redness/swelling). Our patient does not have lymphadenopathy, but often this is the least common finding in KD. If children have fever with fewer than four of the five clinical findings, they can have "incomplete KD" if they meet certain laboratory criteria.
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The disease is characterized by headache, fever, myalgia, and a centrally progressing petechial rash originating on the wrists and ankles.
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Rocky Mountain Spotted Fever (RMSF) is a tick-borne disease caused by Rickettsia rickettsii. This tick is commonly found in southeastern parts of the U.S., and patients will often come from or have a history of travel to that region.
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Symptoms can include sore throat, fever, “strawberry tongue” and a blanching, erythematous rash with desquamation of the affected areas about six to seven days later as the rash begins to disappear.
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Scarlet fever is caused by erythrogenic toxin produced by Streptococcus pyogenes.
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Systemic onset juvenile idiopathic arthritis, also known as Still’s disease
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a subset of JIA describing patients with intermittent rash, fever and arthritis. While our patient does present with rash and fever, as well as refusal to walk (potentially a sign of arthritis), systemic onset JIA tends to present with a history of spiking fevers and “salmon” rash occurring when the child is febrile, and disappearing as the fever fades.
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A 5-year-old male comes to the clinic with a chief complaint of four days of progressively worsening fever and that has been minimally responsive to acetaminophen. The patient complains of sore throat and decreased appetite. His sister had a positive rapid strep test and is now being treated with amoxicillin. Your concern is for Group A strep. What is the next best step in management?
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Rapid strep test with back-up culture if negative
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A 3-year old girl comes to the clinic with a chief complaint of fever (104F) for over a week. Her mom reports that she has been fussy and inconsolable since she became febrile. She has a red tongue, with large papillae, conjunctivitis, a palmar rash, unilateral cervical adenopathy, as well as swollen feet. Given the most likely diagnosis, what is the most important follow-up for this patient over the next few weeks?
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Echocardiogram to look for coronary artery aneurysm because children with Kawasaki disease are at high risk for coronary artery aneurysm formation and should receive an echocardiogram within four weeks of the onset of their illness. Use of IVIG for the treatment of Kawasaki disease has decreased the risk of coronary artery aneurysms significantly. Kawasaki disease is diagnosed when there is a fever plus four of the following: changes in oral mucosa (e.g., strawberry tongue), extremity swelling or redness, unilateral cervical adenopathy, conjunctivitis, and rash. Infectious and rheumatologic causes must be excluded in order to make the diagnosis of Kawasaki disease. |
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A 12-year-old male presents to the ED with complaints of anorexia, weight loss, and persistent cough, with nocturnal coughing fits that have been waking him from sleep for the past three weeks. He denies fever, chills, myalgia, sore throat, or rhinorrhea. The patient presented to his primary care physician one week prior with the same complaint, and was treated with amoxicillin and bronchodilator therapy. His chest x-ray was negative for infiltrates at that visit. The patient's symptoms did not improve with this regimen. The cough became more frequent, sometimes causing emesis. Which of the following is the most likely diagnosis?
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infection with Bordetella pertussis in the paroxysmal stage The paroxysmal stage of pertussis lasts four to six weeks and is characterized by repetitive, forceful coughing episodes, followed by massive inspiratory effort. This massive inspiratory effort is what results in the characteristic "whoop"-sounding cough. This is consistent with the patient's presentation and duration of illness. The forceful coughing fits in pertussis can even lead to conjunctival hemorrhages and pneumothoraces from the increased intrathoracic and intracranial pressures from Valsalva. The antimicrobial agents of choice for treatment of pertussis are azithromycin, clarithromycin, and erythromycin. Antibiotics given in the paroxysmal phase will reduce communicability but will not alter the clinical course. |
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laryngotracheobronchitis
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Croup (laryngotracheobronchitis) presents with difficulty breathing and a “seal bark” cough and usually lasts a week or less. Croup also is usually associated with fever.
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A 12-month-old previously healthy girl presents with cough and mild subcostal retractions. She is afebrile, and physical exam reveals asymmetric wheezing. Chest x-ray demonstrates unilateral air trapping. What is the most likely diagnosis?
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Features of foreign body aspiration include unexplained wheezing and asymmetric breath sounds, as well as air trapping in one lung indicating unilateral airway obstruction. The right main bronchus is the more commonly obstructed due to anatomy (it is wider and more vertical than the left). The most commonly aspirated foods are hot dogs, nuts, hard candy, grapes, and popcorn.
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A 10-month-old infant is brought to the Peds ED by her parents, who say she has been coughing persistently for the last three hours. The parents were watching a movie at home when they first noticed their daughter coughing. Patient is a vaccinated, well-nourished infant in moderate distress with retractions, nasal flaring, and grunting. On auscultation, you immediately notice diminished breath sounds in the right lung with normal breath sounds on the left. What other associated physical exam finding do you expect to hear?
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Asymmetric breath sounds and wheezing This infant is in respiratory distress from foreign body aspiration, consistent with the history of acute onset of distress and asymmetric breath sounds. Common foreign bodies include peanuts, popcorn, grapes, hard candy and hot dogs. Respiratory distress from foreign body aspiration is usually accompanied by asymmetric breath sounds and wheezes on auscultation. |
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Susie is a 3-year-old girl brought into the clinic by her mother because she has a gradually worsening cough and she has been having trouble breathing. Her mother says Susie sounds like she is barking when she coughs. Susie is up to date with her vaccinations. Susie’s mom always watches her when she’s playing. On physical exam, you note that Susie has inspiratory stridor. She does not have wheezing, there are no retractions, and she has symmetrical breath sounds. No pseudomembranes are appreciated on physical exam. What is Susie’s most likely diagnosis?
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Croup or laryngotracheobronchitis is due to a viral infection (Parainfluenza type 1). It is most common in the winter, and often occurs in children age 2 to 5 years. Croup can lead to non-specific URI symptoms with some degree of airway obstruction. A barky or seal-like cough and inspiratory stridor (which should be differentiated from expiratory wheezes) is common in croup.
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Joe, a previously healthy 11-month-old male with 5-day history of a “cold,” is brought to the ED by mom for one day of acute worsening cough and intermittent wheezing. Per mom, the cough was initially dry but has become more “phlegmy,” making it difficult for Joe to breathe, particularly when he is feeding or more active. His immunizations are up to date, and he has no known allergies. His family history is significant for a 6-year old sister who was diagnosed with asthma four years ago. On exam, Joe is afebrile, mildly tachypneic with normal O2 saturation. He has prominent nasal flaring and mild subcostal retractions. He has clear rhinorrhea but no evidence of oropharyngeal erythema. Lung exam reveals decreased breath sounds and wheezes on the right. What is the most likely diagnosis?
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Given Joe’s age, foreign body aspiration should always be included in the differential diagnosis for acute onset wheezing. The lung findings of asymmetric breath sounds and wheezing support this diagnosis. Foreign body in the airway can be confirmed by bilateral decubitus or inspiratory/expiratory chest films, characterized by decreased deflation on the affected side. If complete obstruction, x-ray will generally reveal atelectasis (whiting out) and signs of volume loss (mediastinal shift towards affected side to compensate for loss of volume).
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Bronchiolitis
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Bronchiolitis is a lower respiratory tract infection most commonly caused by RSV, which is characterized by bronchiolar obstruction secondary to mucus plugging, cellular debris, and edema. Patients generally present with fever and URI symptoms which progress to a worsening cough, wheezing and shortness of breath.
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Epiglottitis
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commonly caused by Haemophilus influenzae type B, but can also be caused by Staph and Strep species. Patients may present with fever, dysphagia, drooling, stridor and significant respiratory distress. Patients are generally seen sitting, leaning forward with the neck hyperextended. Epiglottitis has become less common due to immunization with Hib.
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A 4-year-old boy who recently emigrated from eastern Europe presents with his mother to your general pediatrics clinic. His mother reports that he has a chronic nonproductive cough during the day and night, mild wheezing for one month and failure to gain weight (his weight has dropped from the 50th to the 10th percentile for his age). His mother denies any high fevers, rhinorrhea, or night sweats. Which of the following are the next best diagnostic tests?
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XR and tuberculin skin test (TST) is the best choice. Signs and symptoms of primary pulmonary tuberculosis are few to none. Toddlers may present with nonproductive cough, mild dyspnea, wheezing, and/or failure to thrive (defined as weight < 5th percentile or drop in two percentile curves for weight). In children, TB can present without systemic complaints (fever, night sweats, and anorexia), severe cough, and sputum production. Regarding diagnostic tests, the TST is a practical tool for diagnosing TB infections. All children with chronic cough (more than three weeks) should be evaluated with a chest x-ray, as other pathology—such as lung abscess or malignancy—can also be detected on CXR.
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An 11-year old boy presents to clinic with wheezing. Mom states that in the past he has used inhaled albuterol and it has helped with wheezing and shortness of breath. On further history you find out that the patient experiences shortness of breath three times a week and is awakened at night by these symptoms once a week. What is the most appropriate outpatient therapy?
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Low dose inhaled corticosteroid is correct because this patient has mild persistent asthma. His symptoms occur 3–6 days/week and 3–4 nights/month.
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4-year-old patient presents with several months of cough. Mom also reports a history of red skin patches, which are pruritic, and allergies to peanuts, eggs, and mangoes. Which of the following would be characteristic of the cough that this patient would present with?
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Worse at nights Asthma frequently presents with nighttime exacerbations. The cough often presents with wheezing and is usually a dry cough. |
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A 9-year-old male presents to your clinic with discoloration under his eyes, persistent cough, and skin rashes. He is found to have wheezing on physical exam and increased lung volume bilaterally on chest x-ray. He has struggled with these complaints over the past three years but recently his symptoms have gotten worse, affecting him every other day. He is afebrile. He is found to have wheezing on physical exam and increased lung volume bilaterally on chest x-ray. What would be the most appropriate treatment for him?
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Short-acting beta agonist PRN with low-dose inhaled corticosteroid ersistent cough and wheezing that affect the patient every other day (3-4 days with symptoms/week) are consistent with mild persistent asthma, which is appropriately treated with short-acting beta agonist PRN and low dose inhaled corticosteroid. The swelling under the eyes (allergic “shiners”) and skin rash are other signs of atopy, as mentioned above. |
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A 10-year-old male comes to the clinic with a chief complaint of progressive cough for two weeks that began gradually. His cough is described as productive and wet with whitish sputum. His mother denies throat pain, vomiting, and diarrhea in his review of systems. His mother reports that he has been febrile up to 101.5°F daily. She thinks he is fatigued and has not eaten well in the past week. On exam, there is air passage throughout all lung fields, with crackles in the lower right lung field, but no other abnormal sounds. What would you likely find in your workup?
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Alevolar consolidation in the RLL Pneumonia is the most likely cause for his symptoms and a chest x-ray would be a great confirmation of your suspected diagnosis. Eliciting a complete history might reveal history of an upper respiratory infection. Localization of crackles (discontinuous inspiratory sounds) to one lobe makes pneumonia more likely. |
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Rosy is an 18-month-old previously healthy baby girl who presents to clinic with congestion for three days. Today, her vitals are: T 101.2°F, BP 100/60 mmHg, P 80 bpm, RR 28 bpm. On physical exam, Rosy has clear mucus coming from both nostrils. Both turbinates show erythema. Her oropharynx is erythematous. No crackles or wheezing are heard. Mom reports that acetaminophen aids in bringing down the fever temporarily; however, the fever returns in a few hours. Mom is concerned for possible pneumonia since she was recently was given antibiotics for bronchitis. Her immunizations are up to date. Which of the following is most likely responsible for Rosy’s symptoms?
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Rhinovirus causes the common cold and is the most reasonable diagnosis. Rhinovirus is a very common cause of congestion and other cold-like symptoms. Rosy presents with slightly elevated temperature, slight tachypnea, and inflamed turbinates and oral mucosa. Her symptoms all correlate with the common cold.
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A 14-month-old female with no significant past medical history presents to clinic with fever to 39.2 C and irritability. According to mom, the patient was initially sick one week ago with a runny nose and cough, but these symptoms had resolved. She started pulling at her ear and becoming increasingly irritable last night, with her fever spiking around 2:00 a.m. this morning. Patient is up to date on immunizations, and has had several prior ear infections. She was most recently treated last month. When you examine her ears, you observe a red, bulging tympanic membrane with limited mobility in her left ear. The exam of the right ear is normal. You are confident in your diagnosis of acute otitis media. What is your treatment plan?
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Amoxicillin/clavulanate (with high-dose amoxicillin component) This choice is correct because of the severe symptoms our patient is exhibiting with a high temperature greater than 39 C. Amoxicillin/clavulanate is the treatment of choice for patients with moderate to severe otalgia or high fever, and is used for additional beta-lactamase coverage forHaemophilus influenzae and Moraxella catarrhalis, and when failure with amoxicillin is suspected. |
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An 18-month-old female is brought to her pediatrician by her mother who notes that she has been has been fussy for the past three days and has been pulling on her ears. The child is up to date with her hepatitis B, rotavirus, DTaP, H. influenza type B, pneumococcus, and polio vaccines. Her temperature is 102.2 F. Otoscopic exam of her left ear shows a yellow, opaque, and bulging tympanic membrane. Which of the following organisms is the most likely cause of the child's condition?
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H. influenzae is a frequent cause of AOM (15–52% of cases). Although the child has been vaccinated against H. influenzae type B, this does not cover the unencapsulated strains of H. influenzae that cause AOM.
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An 18-month-old presents with yellow and poorly mobile tympanic membranes. Four months prior he presented then with several days of nasal congestion, cough, decreased eating and ear tugging. His exam then revealed a red, nonmobile tympanic membrane and he was treated with amoxicillin. Based on the history and physical exam, what is the most likely diagnosis now?
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Otitis media with effusion The earlier diagnosis of acute otitis media together with current findings of bilateral yellow and poorly mobile tympanic membranes on physical exam make this the most likely diagnosis. |
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An 8-year-old girl comes to the clinic with a chief complaint of a “cold” for the past two weeks. On further questioning, she developed a fever of 38.7°C, purulent nasal secretions, malodorous breath, and a nocturnal cough three days ago. Examination of the nose reveals pus bilaterally in the middle meatus, and tenderness over the mid-face. Which of the following is the most likely diagnosis?
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Maxillary sinusitis The maxillary and ethmoid sinuses are large enough to harbor infection in infancy. The sphenoid sinuses do not become large enough until the third to fifth year of life, and the frontal sinuses are rarely large enough until the sixth to tenth year of life. Sinusitis is characterized by the findings in the question stem, and is often preceded by a URI. Pus draining from the middle meatus is suggestive of either maxillary, frontal, or anterior ethmoid sinusitis. |
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Johnny is a 25-month-old male who presents to the ED with a 2-day history of vomiting and diarrhea. Dad relays a history of abrupt onset of vomiting that started yesterday around 1 pm. Johnny has had 6 episodes of emesis since yesterday and 3 episodes of diarrhea. The emesis is non-bilious and the diarrhea is described as watery with specks of blood throughout the diarrhea. There are no sick contacts in the home. Vital signs: T 37.1, P 102, R 20, BP 90/60. Physical examination is normal and Johnny has still been tolerating some PO feeds without instant vomiting. What is the most immediate intervention for this patient?
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no immediate intervention is necessary At this point the patient is most likely suffering from a case of viral gastroenteritis. Because he is still tolerating some PO feeds, has no obvious signs of dehydration, and has normal vital signs, there is no need for aggressive IV fluid administration or diagnostic work up. Strict return precautions should be given and it should be advised that Johnny maintains fluids as much as possible. |
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Rashid is a 5-week-old baby boy who presents to clinic with 4 days of repeated, forceful, non-bilious, non-bloody vomiting without diarrhea. He has 8 to 9 episodes of vomiting per day immediately following breastfeeding. The episodes started 2 weeks after the entire family suffered from severe viral gastroenteritis. His birth history is uncomplicated (full term, NSVD, unremarkable 30-week ultrasound) and birth weight was 3.6 kg (50th percentile). On exam, his vitals are: T 36.7°C, HR 185, BP 85/45, RR 36, Wt 4.1 kg (25th percentile). On exam, his eyes are moderately sunken without production of tears, his lips are cracked, and his throat is without erythema. His capillary refill is ~3 seconds, and his pulse is thready. What is your first step in management?
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Intravenous lactated Ringer's solution of 20mL/kg boluses until baseline clinical status is achieved, then 100 mL/kg oral rehydration solutions over next 4 hours. Lactated Ringer’s solution or normal saline in 20 mL/kg boluses until urine output is established and mental status improves, then 100 mL/kg oral rehydration solutions over next 4 hours. This follows current CDC guidelines for treating a severely dehydrated child. Intravenous hydration with 5% dextrose ½ normal saline at twice maintenance fluid rates may be substituted for the oral rehydration solution if the child is not tolerating PO intake. To replace ongoing losses, the CDC recommends 60–120mL of oral rehydration solution per diarrheal/emetic episode (through a nasogastric tube, if necessary). |
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A 6-month-old male comes to clinic with a chief complaint of several weeks of vomiting after large feedings. The vomiting has become blood-streaked, which is when the mom became concerned and brought him in. The baby’s PO intake has been down and he has been losing weight. Abdominal exam is normal, with no masses palpated. What is the most likely diagnosis?
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GERD is correct because regurgitation/spitting up may be difficult to distinguish from true vomiting. Infants who reflux with overfeeding may sometimes have forceful vomiting. Severe esophagitis may result in blood-streaked emesis. Pain from reflux or esophagitis may lead to feeding aversion when gastroesophageal reflux is severe. |
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You are seeing a 1-month-old male who is < 3rd percentile for weight. He is breastfed every 2 hours and latches on well. However, he has frequent non-bilious episodes of vomiting that have been increasing over the past week despite his mother taking “reflux precautions.” He does not have mucus or blood in his stool. Physical exam reveals a small, olive-sized mass in his abdomen. What is the most likely diagnosis?
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Pyloric Stenosis is correct because the history of frequent vomiting, poor weight gain, and the finding of an abdominal mass are consistent with pyloric stenosis. Children with pyloric stenosis often present at 3 weeks of age. |
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A 15-month-old boy presents to the ED in January with a 3-day history of diarrhea. His current weight is 11 kg. He was born at 39 weeks, without any perinatal complications. There is no significant history of travel, sick contacts, or recent changes in diet. The mother notes that he has had only 2 diaper changes over the last day. Physical exam is remarkable for an irritable but consolable infant with tachycardia and normal blood pressure. He is crying without tears and his mucous membranes are dry. His abdominal exam is benign. There is no tenting, and capillary refill is 2 seconds. He is diagnosed with gastroenteritis and started on rehydration therapy. Which of the following statements is true?
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The work-up for infectious diarrhea for this patient should include a Wright's stain for fecal WBCs, a stool Rotazyme, and a stool sample for culture and sensitivity. In addition to correcting this patient’s hydration status, a work-up for the infectious causes of this patient’s diarrhea might include a stool Wright’s stain for fecal WBCs (which would suggest a bacterial cause if this is infectious diarrhea), a Rotazyme test (given the high incidence of rotavirus in the winter months), and a stool sample for culture and sensitivity. Additional studies might include stool guaiac (for occult blood) and a check for stool C. diff toxin. |
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Luanne is a 15-year-old female with 3 hours of abdominal pain and 2 episodes of non-bilious, non-bloody vomiting. She rates her pain at 8/10 and constant, located mainly in the middle of her belly, but is somewhat present throughout her abdomen. It is worse with coughing and moving. She has never had this pain before, and has had no appetite since the pain started. She is sexually active with her boyfriend of 3 months, always uses condoms, and has not been tested for STIs. Her last menstrual period was 2 weeks ago. Vitals: 37.9, HR 100, BP 120/85, RR 14. On exam, she exhibits involuntary guarding, mild rebound tenderness and tenderness to palpation between her right anterior superior iliac spin and umbilicus. On pelvic exam, she reports tenderness when attempting to palpate her right adnexa, but no masses are appreciated and there is no cervical motion tenderness. Her WBC and CRP are within normal limits. Based on the information above, what is the most likely diagnosis?
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Appendicitis is the most common condition in children requiring immediate surgical intervention, but often presents differently than in adults (especially in infants). Aspects of their atypical presentation include lack of migration of pain to the RLQ, negative Rovsing’s sign, and involuntary guarding and fever without perforation. In school-age children who can articulate the pain, they often describe pain with movement or coughing (cat’s eye sign). Also, rebound tenderness was found to be neither sensitive nor specific in the pediatric population, while in the adult population it is one of the most accurate PE findings (86%). Luanne is of the older pediatric population, and so will present with a more typical appendicitis. Her sudden onset of intense pain at the umbilicus with vomiting, anorexia, and tenderness at McBurney’s point are all classic findings. The more atypical signs include diffuse pain centered below the umbilicus, and rebound tenderness that might point to a perforation (more likely, it is part of the atypical pediatric presentation given her normal WBC). Another atypical aspect of her exam is her adnexal pain during the pelvic exam, which could be due to the degree of inflammation and the positioning of her appendix. The key take away point is to have a high index of suspicion for appendicitis for pediatric patients with abdominal pain given their atypical presentation.
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A 4-year-old girl with a history of type 1 diabetes mellitus was admitted to a local hospital for treatment of DKA. A few hours after the treatment, she develops grunting, tachypnea, and has vomited twice. On exam, her left eye is pointing downward and out on straight gaze. Her diastolic blood pressure is 90 mmHg. What is a likely diagnosis?
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Cerebral Edema This choice is correct. Administration of bicarbonate during DKA treatment increases the risk of cerebral edema. Although symptomatic cerebral edema is rare (less than 1%), it is associated with a high mortality rate (over 20%). The signs of cerebral edema are described in the vignette, and include tachypnea, headache, vomiting, third nerve palsy, and high blood pressure. |
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A 9-year-old female is brought to clinic by her mother because of two days of abdominal pain and vomiting. She has vomited six times today and has had decreased appetite, but no diarrhea, fevers, sick contacts, or changes in diet. Her mom states that she has been otherwise healthy apart from increased thirst and occasional bedwetting over the last few weeks. Of note, patient’s maternal grandmother suffers from celiac disease. On exam, patient is afebrile and has a HR of 180 bpm, BP 90/60 mmHg, RR 50 bpm, and O2 saturation of 98%. She is lying in bed, appearing slightly drowsy, taking rapid, deep breaths and is slow to respond to questions. Her heart and lung exams are normal apart from being tachycardic, and abdominal exam reveals mild diffuse tenderness to palpation with no rebound or guarding. Which of the following would be the most appropriate next step in management?
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btaining a fingerstick glucose is the diagnostic step with the highest yield since the patient’s clinical picture is strongly indicative of diabetic ketoacidosis (DKA). DKA is a condition more closely associated with Type 1 (rather than Type 2) diabetes, and is formally diagnosed if a random glucose is > 200 mg/dL, venous pH is < 7.3, bicarbonate is < 15 mEq/L and there is ketonemia or ketonuria. Patients in DKA can present with abdominal pain and vomiting secondary to metabolic acidosis that stems from ketonemia and lactic acidosis. Furthermore, osmotic diuresis from hyperglycemia may contribute to dehydration, which can manifest as tachycardia, hypotension and altered mental status. In an attempt to compensate for the metabolic acidosis, the patient may also present tachypneic with characteristic Kussmaul respirations (rapid, deep breaths). This patient’s history of polydipsia, enuresis and family history of autoimmune disease (including celiac disease and Hashimoto’s thyroiditis) suggest that the patient has Type 1 diabetes. Her current vital signs and general state of lethargy also point towards DKA and should be confirmed with a fingerstick glucose (in addition to other tests).
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A 9-year-old male presents to the ED in an ambulance after he was found unconscious at a local playground. In the ED he is arousable but extremely obtunded. He is able to minimally verbalize that his head hurts and his stomach feels uncomfortable. He states the pain is constant and non-radiating. He vomits clear liquid twice over the course of 30 minutes. Vital signs are as follows: T 37.6 C, P 66 bpm, BP 155/80 mm Hg, RR 18 bpm. You further notice that his breathing is irregular with brief episodes of apnea. On physical exam you are unable to reproduce the abdominal pain and there is no rebound tenderness or guarding. The rest of the physical exam is unremarkable. What is the most likely diagnosis?
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Intracranial hemorrhage. This is the correct choice. Increased ICP can be secondary to epidural or subdural hemorrhage. It is possible the patient may have fallen while playing in the playground. Increased ICP can present as the classic Cushing’s triad: hypertension, inappropriate slowing of the heart rate, and irregular respirations (Cheyne-Stokes respiration). A further complication of increased ICP is epigastric discomfort. This is caused by the elevated ICP causing vagal stimulation, resulting in the secretion of gastric acid. Lastly, the patient’s headache and non-bilious vomiting can also be ascribed to the increased ICP. |
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A 7-year-old boy is brought by ambulance to the ED with altered consciousness. The EMT said he found the boy in a pool of vomit. He is unable to answer questions coherently and he is alone. Physical exam findings indicate dry mucous membranes, tachypnea, tachycardia, and moaning on palpation of the abdomen. His physical exam is otherwise normal, including a normal blood pressure. What is the most likely cause of his condition?
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DKA typically presents with altered mentation, vomiting, dehydration, and abdominal pain. The history will yield polydipsia and polyuria during the days preceding DKA. Metabolic acidosis causes tachypnea as the body tries to blow off CO2 through a compensatory respiratory alkalosis.
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A 9-year-old male is brought to the ED in a coma secondary to diabetic ketoacidosis. Which of the following laboratory results would NOT likely be found in this patient?
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Lab of Low potassium (even though K+ is actually low) In diabetic ketoacidosis, the acidosis and lack of insulin cause potassium to leave cells and enter the serum, causing an elevated serum potassium level. However, as the DKA is corrected and insulin is administered, the potassium will re-enter the cells, causing a decreased serum potassium level, so potassium levels should be monitored closely when therapy is initiated. |
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An 8-year-old obese male comes to the clinic with a chief complaint of right knee pain with the right foot medially rotated. On an exam the right knee is neither swollen nor erythematous but he is noted to have a limited ROM of the right hip. In addition, when he lifts his right leg, it externally rotates. The patient did not have a URI or any trauma preceding the onset of pain. The vital signs are normal at the time of the visit and he is well appearing and afebrile. What is/are the best next step(s) in management?
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AP and lateral x-ray followed up by internal reduction of the femoral head his choice is correct because the AP and lateral x-rays are needed to diagnose a slipped capital femoral epiphysis, which is considered an emergency. This patient's age group, his obesity, and the description of the external rotation of the right leg when the hip is flexed all suggest this diagnosis. |
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A 6-year-old female comes to the clinic with a chief complaint of worsening right knee pain over the past month. On exam, you note generalized lymphadenopathy and splenomegaly. She coughs intermittently throughout the visit, and her mother explains that she is just getting over a cold. You note absence of tenderness, erythema, effusion or warmth over the hip, knee, or ankle joints. Her vitals are unremarkable except for a low-grade fever (100.8 F). Reviewing her chart, you note that she has lost 5 lbs since her visit 2 months ago. She sits with her right leg externally rotated but appears to be in pain despite trying several different positions, refusing to bear weight on that side. What is the most likely diagnosis?
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Leukemia Leukemia can present as bone pain due to replacement of bone marrow by leukemic cells. Patients may present with a limp or refusal to walk. Leukemia is associated with systemic symptoms such as low-grade fever, chronic/insidious joint pain, generalized LAD, weight loss, and/or hepatosplenomegaly. |
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A 3-year-old girl comes to the clinic with a limp and a slightly externally rotated right hip. Which of the following signs/symptoms would you expect in the history or exam if a diagnosis of transient synovitis were made?
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History of a recent upper respiratory tract infection Transient synovitis of the hip is associated with a low-grade fever and frequently occurs during or after a URI. Between 32% and 50% of children who present with transient synovitis had a recent upper respiratory tract infection. It is also important to remember that transient synovitis is a diagnosis of exclusion, and it is important to rule out other causes of hip pain that may require urgent intervention, such as septic arthritis. |
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A 3-year-old female is at the pediatrician’s office for continued right knee pain after a ground-level fall six weeks ago. The patient is UTD on all immunizations, has no significant PMH, and no recent illnesses. Mom reports the patient complains of pain mostly in the morning when going to daycare but doesn’t seem to be bothered by it while playing outside in the afternoon. On exam the patient’s vitals are all within normal limits. Her physical exam reveals a well-appearing toddler who walks stiffly and avoids bending her right knee. The knee has a mild effusion but no obvious erythema. There is pain with passive flexion and extension of the right knee. During the exam the girl tells you her left ankle also hurts, which mom had forgotten about but says started hurting the same time as the right knee. Her CBC is normal, while her ESR and CRP are mildly elevated. Which of the following is the most likely cause of this patient’s condition?
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Juvenile idopathic arthritis (JIA) is correct for several reasons. Pauciarticular juvenile arthritis is the most common type of JIA (60% of JIA) and causes pain in four or fewer joints for six or more weeks. This patient is generally well even after six weeks of pain, which would be unlikely if this patient had septic arthritis. Her pain improves with activity, and the ESR/CRP are only mildly elevated. On exam, she has a mild effusion but no obvious erythema. In cases of systemic JIA, patients may have a rash which lasts only a few hours (evanescent) that is also macular and salmon, and high-spiking and appears periodically (once or twice a day); however, this form of JIA is not consistent with this patient’s history.
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4-year-old child is refusing to walk over the course of a week. Her mother recalls that she fell off her bike yesterday. On exam, she is afebrile, but has decreased ROM of her hip. You review her file and note that she is up-to-date on her immunizations and she was last seen three weeks ago for a self-limited episode of diarrhea that she developed while visiting family in rural Mexico. Aspiration of her affected hip joint reveals slight increase in inflammatory cells but normal chemistries and a negative gram stain. Culture is pending. Which of the following is the most likely diagnosis?
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Reactive arthritis The patient likely had a recent case of mild to moderate gastroenteritis in Mexico, which may have been secondary to an bacterial enteritis such as shigella, or campylobacter. In reactive arthritis, joint inflammation occurs a few weeks later because antibodies made during the illness are attacking the joint. While several inflammatory cells would be seen in the aspirate, importantly, the cultures will turn out to be negative. |
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A 3-week-old infant is brought to the pediatrician for failure to thrive (despite adequate, even prolonged, feedings) and respiratory distress (particularly tachypnea). EKG shows high voltage QRS complexes in leads V1 and V2. What other features does this infant most likely have?
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Left to Right Shunt A heart murmur from a VSD is typically not appreciated in the immediate newborn period, as the pulmonary vascular resistance is still quite elevated. During this time, since the pulmonary vascular resistance equals the systemic vascular resistance, there is no shunting of blood through the open VSD. However, after a few days to weeks after birth, the pulmonary vascular resistance decreases, and the murmur appears, reflecting the shunted flow of blood through the open VSD (from left to right). |
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You have accepted a part-time tutoring job for first-year medical students. One of your students asks if you would please clarify the details of normal fetal circulation. Which of the following best describes the path of the majority of the blood that enters the right atrium?
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RA > RV > ductus arteriosus > systemic circulation The majority of the fetal circulation travels this route. Approximately 90–92% of the blood that enters the RV (two-thirds of the blood that enters the RA) travels out and through the ductus arteriosus, bypassing the pulmonary circulation and the left heart, ending up in the descending aorta. This blood is perferentially less oxygenated than that which flows through the foramen ovale. Like the foramen ovale, closure of this bypass is a normal transition from intra to extrauterine life. |
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A 5-year-old boy is noted to have a grade II systolic murmur and a widely split S2 murmur on cardiac exam. His vital signs are stable and he has been asymptomatic. Which of the following statement is accurate regarding this patient’s presentation and likely condition?
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This patient's murmur is caused by flow through the pulmonary outflow tract and should be evaluated This patient’s murmur is likely caused by an atrial septal defect, which causes flow of additional blood through the pulmonary outflow tract and should be evaluated. |
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A 1-month-old African-American male presents to your office for a check-up. The baby was born at term by NSVD to a 29-year-old G1P0 mother with no complications. Mother states the baby was feeding well until a week ago, when he developed increased sleepiness, prolonged feeding, and greater duration between feeds. His mother notes he stops to take breaks sometimes because he seems to be trying to catch his breath. He has 4 to 6 wet diapers per day and poopy diapers 3 or 4 times per day. Vital signs are: T: 37.6 C, RR: 68 bpm, P: 138 bpm, BP: 88/58 mmHg, and 02 saturation is 98%. The physical examination is notable for increased respiratory effort and retractions, and, upon cardiac examination, a murmur with a hyperactive precordium and no cyanosis. Abdominal exam reveals a liver edge palpable to 4 cm below the right costal margin. Which condition would be least likely to be the cause of the patient’s symptoms?
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Atrial septal defect correct because atrial septal defects (ASDs) do not cause CHF. An ASD malformation is a left-to-right shunt, and—depending on the size of the defect—the patient may or may not present with symptoms. ASDs often go undiagnosed for decades due to subtle physical examination findings and/or a lack of appreciable symptoms. If the defect is large enough, pediatric patients may present with easy fatigability, recurrent respiratory infections, or exertional dyspnea. |
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A previously healthy and developmentally normal 16-month-old male comes to the urgent care clinic with his father with a chief complaint of his first reported seizure. The child was reported to have dropped to the floor with loss of consciousness and had sporadic twitchy movements of his legs and arms that lasted for five minutes. The child has had URI symptoms for the past two days, with a fever to 103 degrees F without any changes in mental status. Neither parent has a seizure disorder, but the child’s mother reports having a single seizure as a young girl once after developing a high fever after a cold. What is the most likely diagnosis?
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Simple febrile seizure Febrile seizures are one of the most common causes of seizures in children. Simple febrile seizures are more common than complex febrile seizures and are characterized by < 15 minutes duration, occurring only once in a 24-hour period, and are generalized (in this patient’s case, generalized tonic-clonic). Febrile seizures are usually self-limited events triggered by an acute febrile illness. A positive family history for febrile seizures in the parents makes it a more likely diagnosis in their children. This particular diagnosis fits this patient the best. |
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During the middle of dinner on your day off, you receive a call from one of your neighbors who remembers that you are a medical student. He is concerned about his 15-year-old daughter who had previously been in her usual state of health and has no significant past medical history. However, over the past 24 hours, his daughter suddenly spiked a fever of 103 F and has “not been herself,” acting very lethargic and dazed at times. He also notes that she has been breathing heavily, not been able to eat or drink, and has not urinated over the past 12 hours. He wants your advice about whether she should be taken to the ED. Although you are fairly certain that the best course of action would be to take her to the ED, you contemplate the differential diagnosis of her presentation. Given the limited history, which of the following is highest on your differential?
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meningitis is the most likely etiology in our differential given the fever, altered mental status, decreased PO intake, and decreased urine output. While the incidence of meningitis has decreased in this patient’s age range due to increased vaccinations against the most common causative organisms of meningitis, it still remains high on our differential given the presentation of this patient. In the ED, we would likely need to obtain a more thorough history and physical exam as well as blood cultures and lumbar puncture to establish the diagnosis of meningitis.
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You see a 6-year-old male in the ED who presents with a history of a 10-second episode of jerking movements of his extremities with unresponsiveness, observed by both of his parents. His parents claim he has had abdominal pain and small quantities of bloody diarrhea for two days. The child has no significant past medical history, has taken no medications recently, has no pets, and has not traveled outside of California in the past year. He attends kindergarten. Which organism is the most likely cause of the child’s symptoms?
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Shigella sonnei causes bloody diarrhea and WBCs in the stool on Wright stain. Rarely, children infected with Shigella can suffer from seizures due to neurotoxin release.
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A woman brings her 8-year-old son to the pediatrician after witnessing him stare blankly into the distance at dinner the previous week. He was unresponsive to her calling his name or any other stimuli, and it lasted for about 10 or 20 seconds. His teacher reports he does seem to daydream often in class but is able to keep up with schoolwork and excels in his studies. She doesn’t note him being disruptive or impulsive in class. His mother is concerned about these blank stares and unresponsive episodes. Which of the following is the most likely diagnosis?
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The patient is having absence seizures. Absence seizures are characterized by loss of awareness of surroundings (“blank stare” or “in another world”) and automatisms (e.g., eye-fluttering or lip-smacking). These patients do not lose consciousness or have loss of tone. Absence seizures should also be differentiated from ADHD, since children with ADHD also can be inattentive or seem to be daydreaming. However, since the patient in the vignette still does well in school and does not have other signs of ADHD, it is most likely an absence seizure. An EEG will confirm the diagnosis.
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You are working overnight call in the ED when Charlie, a 3-year-old male infant, arrives after his parents witnessed an episode of convulsions at home. His parents report that Charlie was in his usual state of good health until three days ago when he developed fever, cough, and rhinorrhea. This evening they found him in bed with his eyes rolled upward, jerking all four of his extremities uncontrollably. He was unarousable from this state, which self-resolved after about two minutes. This has never happened before. Currently, Charlie is sleepy but arousable and complains of nausea. His vitals include T 103.2 F, P 112 bpm, BP 100/60 mmHg, RR 22 bpm, O2 sat 99% on room air. Aside from rhinorrhea and erythematous mucous membranes, the remainder of his physical exam is unremarkable. What is the next best step in management?
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Workup the source of fever. This is the correct answer because Charlie has likely experienced a febrile seizure in the setting of an infection. These are relatively common occurrences in Charlie’s age range (6 months to 5 years), and the first priority would be to identify the source of fever and treat it. |
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A 7-year-old boy presents with a five-year history of intermittent vomiting, vertigo, and throbbing unilateral headaches that seem to be induced by emotional stress and when his teacher wears perfume. He reports that the pain is not worsened by long naps or coughing. His mother reports that she has a history of headaches that started as a child and wonders if her son inherited this from her. His neurological exam shows no focal deficits. What is the next step in diagnosis or treatment?
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Trial of prophylactic medication for migraine headaches this child is presenting with signs of both typical and atypical migraines and could be started on a trial of prophylactic medication. Tricyclic antidepressants (TCAs) are often used in children for migraine prophylaxis, which is the most likely diagnosis in a child with this constellation of symptoms. |
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A 7-year-old boy with a past medical history of headaches presents with increased frequency and severity of headaches along with new onset vomiting. When the patient was walking into the room, he had a wide stance and nearly tripped twice. Which of the following is the most appropriate next step?
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MRI is more expensive and less readily available than CT imaging. It also frequently requires sedation in pediatric patients. However, it provides the best detail of the posterior fossa, which is the most common location of pediatric brain tumors.
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A 3-year-old girl presents to the ED with sudden onset difficulty walking. She does not have a fever, headache, nausea, or vision changes, but two weeks ago she had a runny nose, a fever, and a rash. Musculoskeletal exam reveal no abnormalities of lower extremities. Neuro exam reveals bilateral horizontal nystagmus, wide based stance and swaying, and bilateral overreaching on finger to nose test. An LP is performed which reveals a normal CSF. Which of the following is the most likely diagnosis?
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Post-infectious cerebellitis is correct. This typically presents in a younger child with ataxia, nystagmus, vomiting and sometimes dysarthria. It is believed to be an autoimmune response leading to demyelination of the cerebellum occurring several weeks after a viral infection such as varicella or coxsackie virus.
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A 12-year-old girl presents to her PMD complaining of a headache of gradual onset x 3 hours, non-provoked and described as a “big rubber band around my whole head” and a 5 out of 10 on the pain scale. The pain is not throbbing, and there is no associated photophobia, nausea or vomiting. The patient is afebrile, and there are no neurologic deficits during physical exam. Her mother states her pain is typically relieved with ibuprofen, but her mother is concerned that patient may have migraines because she has a few headaches every month after school. The child is otherwise healthy. What is the most likely cause of this girl’s headaches?
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Tension-type headaches are often bilateral and involve the forehead, temporal areas, or back of the head. Tenderness of the posterior muscles of the neck may also be present. They should be responsive to NSAIDs. Stress can give rise to a tension headache, and this is consistent with this patient developing headaches after school.
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A previously healthy 4-year-old girl is brought to her pediatrician because her parents have noticed that she has been less active than usual for the past three weeks. Her father explains that it is difficult to get his daughter out of bed in the mornings and that she no longer plays outside with her older brother. Physical examination is notable for a temperature of 38.4 C, heart rate of 125 bpm, pallor, truncal bruising, and diffuse lymphadenopathy. The remainder of the exam, including a thorough neurologic assessment, is unremarkable. Which of the following is the most likely diagnosis?
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Acute lymphoblastic leukemia is correct. The child presents with evidence of anemia (fatigue, tachycardia, pallor) and thrombocytopenia (unexplained bruising). Failure of two or more hematologic cell lines should always raise suspicion for malignant invasion of the marrow. Furthermore, the child’s chief complaint, fatigue, is the most common presenting symptom of acute leukemia. Finally, the incidence of ALL peaks at age 4 years.
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Steven, a 5-year-old boy with no significant past medical history, was in his usual state of health until last night when he developed abdominal pain. This morning his mother noticed a red and blotchy rash on his buttocks and lower extremities and his abdominal pain has worsened. Otherwise, he has no other symptoms and except for an upper respiratory tract infection last week, he has been in good health recently. On exam, the presence of palpable purpura and petechiae over the buttocks is confirmed. Laboratory studies are normal and, after a clinical diagnosis is made, he is discharged home the same day and given instructions to return for follow-up. Which of the following is important to measure at the first follow-up visit?
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BP and urinalysis is the correct answer. This patient likely has Henoch-Schonlein Purpura (HSP). The exact etiology of HSP is unknown, but it is believed to involve an IgA-mediated immune response to infection or other triggers. The incidence is 10 cases per 100,000 children with a peak at ages 4 to 6 years (range of 2 to 17 years). HSP is characterized by a rash consisting of petechiae and palpable purpura. Other findings include a colicky diffuse or periumbilical abdominal pain, arthritis or arthralgia, and renal disease. Given the incidence of renal disease, it is important to check the urine for signs of hematuria or proteinuria; sudden changes in blood pressure can potentially suggest a change in renal function. With abnormal findings, serum BUN and creatinine must be checked.
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A 5-year old previously healthy boy is brought to his pediatrician with complaints of intermittent abdominal pain, right ankle pain, and a purpuric rash over his buttocks and lower extremities. His mom says she thinks he may recently have recovered from an upper respiratory infection. Which of the following statements is true?
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HSP is classified as a small vessel vasculitis. The exact mechanism of HSP is unknown; however, it is thought to be an IgA-mediated immune response affecting small vessels (skin, GI tract, joints, kidneys). Approximately 50% of cases follow viral or bacterial URIs. Biopsy of affected organs shows leukocytoclastic vasculitis with IgA deposition.
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Alex is a 6-year-old boy who presents to the clinic with a chief complaint of acute onset of bruising. He is afebrile, and his mother reports that he recently had a URI. He was born at full-term and has never been hospitalized. He was circumcised at birth with no problems with bleeding. No one in his family has any chronic medical problems. There have been no serious childhood illnesses or deaths. No one has a history of easy bruising or bleeding. On exam you find that he has a purpuric rash on his buttocks and legs. His urinalysis reveals 15 to 20 RBCs/hpf. Which of the following additional findings would NOT be consistent with the likely diagnosis?
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Low platelets Thrombocytopenia is not characteristic of HSP, but is commonly seen in idiopathic thrombocytopenic purpura (ITP). Decreased platelets are often the delineating finding between HSP and ITP. |
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A mother brings her 8-year-old son to his primary care physician for pain in his knees and ankles that have been present for the past three days. She also notes that he has had a rash since yesterday, but otherwise feels well. The patient has no chronic illnesses, but he was brought in three weeks ago for an upper respiratory infection. Exam is significant for pain elicited on passive movement of the ankles and knees. Additionally, the patient is found to have an erythematous, slightly raised, non-blanching, maculopapular rash over the legs, buttocks, and posterior portion of the elbows. CBC shows WBC 8.9, Hgb 12.5, Hct 36.1, and Plt 327. Urinalysis is unremarkable. Skin biopsy shows leukocytoclastic vasculitis with IgA deposition. Which of the following is the best next step in management?
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Observation. The joint pain, purpuric rash, and IgA deposition on skin biopsy support the diagnosis of HSP. Most cases of HSP resolve within approximately one month and do not require treatment. However, symptomatic treatment for joint pain, initially with NSAIDs, may be indicate |
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A 16-year-old obese Caucasian female with a history of irregular menses presents to the ED with severe abdominal pain and altered mental status. She uses intravenous drugs weekly. She has regular unprotected sexual intercourse with multiple male sexual partners. She has experienced fevers, nausea, vomiting, and right shoulder pain and reports no vaginal bleeding. She has not regularly seen a physician for years. Only bedside studies are performed. Vitals are T 38.0 C, BP 90/60 mmHg, P 120 bpm, R 20 bpm. Qualitative B-hCG is positive, and hemoglobin is 7 g/dL. On exam, she is in apparent distress and has difficulty answering questions. Auscultation of the chest is clear. The abdomen is somewhat rigid with tenderness in the right lower quadrant as well as guarding and rebound tenderness. On pelvic exam, there is cervical motion tenderness but no bleeding or masses noted. What is the most likely diagnosis?
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he patient likely has a ruptured right-sided ectopic pregnancy, as indicated by the positive pregnancy test and hemodynamic instability. Hemorrhage into the peritoneum may irritate the peritoneum and cause referred pain to the right shoulder. Cervical motion tenderness may also be found. Patients may experience nausea, vomiting, and fever.
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A 16-year-old female presents with acute onset of diffuse abdominal pain with periodic sharpness in the right upper quadrant that radiates to her back. She has had some episodes of vomiting and has a fever. She is sexually active and has used alcohol in the past. Which of the following is most likely to present with right upper quadrant pain? Pancreatitis, UTI, Ectopic Prego, Appendicitis, Ovarian Torsion |
pancreatitis commonly causes continuous abdominal pain that can localize to the right and left upper quadrants (“band-like pain”) as well as radiating to the back. Nausea and vomiting are nearly always present. Lipase is the most sensitive and specific lab test to diagnose pancreatitis.
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A 16-year old female presents to the ED with abdominal pain. Upon questioning, the patient notes that the pain is pretty consistently in the RLQ without radiation. She denies dysuria, hematuria, or blood in the stool. She has a history of multiple sexual partners and inconsistent condom use. She does not use any other contraceptive measures. She believes her last menstrual period was 3 weeks ago, but she is unsure. She has no history of abdominal or pelvic surgeries. Her temperature is 100.8 F, heart rate is 85 bpm, respiratory rate is 12 bpm, and blood pressure is 110/70 mmHg. Her abdominal exam is notable for involuntary guarding, tenderness to palpation in the RLQ without rebound tenderness, and no CVA tenderness. Her pelvic exam is notable for cervical motion tenderness with some discharge. What is the best NEXT step in management?
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A pregnancy test is the best first step in management. Pregnancy is one of the indications for inpatient management of PID, so this is very important information when determining whether to admit the patient from the ED or to provide outpatient treatment. While cervical cultures and empiric antibiotics are obviously a must when you suspect PID, pregnancy test is the first step, and the best answer.
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Luanne is a 15-year-old female who presents with three hours of abdominal pain and two episodes of non-bilious, non-bloody vomiting. She rates her pain at 8/10 and describes it as constant, located mainly in the middle of her belly but somewhat present throughout her abdomen. It is worse with coughing and moving. She has never had pain like this before, and has had no appetite since the pain started. She is sexually active with her boyfriend of three months, always uses condoms, and has not been tested for STIs. She is due to start her period next week. Vitals: 37.9 C, HR 100 bpm, BP 120/85 mmHg, RR 14 bpm. On exam, she exhibits involuntary guarding, mild rebound tenderness, and tenderness to palpation between her right anterior superior iliac spine and umbilicus. On pelvic exam, she reports tenderness when attempting to palpate her right adnexa, but no masses are appreciated and there is no cervical motion tenderness. Her WBC and CRP are within normal limits. Based on the information above, what is the most likely diagnosis?
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Appendicitis is the most common condition in children requiring immediate surgical intervention, but often presents differently than in adults (especially in infants). Aspects of their atypical presentation include lack of migration of pain to the RLQ, negative Rovsing’s sign, and involuntary guarding and fever without perforation. In school-age children who can articulate the pain, they often describe pain with movement or coughing (cat’s eye sign). Also, rebound tenderness was found to be neither sensitive nor specific in the pediatric population, while in the adult population it is one of the most accurate PE findings (86%). Luanne is of the older pediatric population, and so will present with a more typical appendicitis. Her sudden onset of intense pain at the umbilicus with vomiting, anorexia, and tenderness at McBurney’s point are all classic findings. The more atypical signs include diffuse pain centered below the umbilicus, and rebound tenderness that might point to a perforation (more likely, it is part of the atypical pediatric presentation given her normal WBC study). Another atypical aspect of her exam is her adnexal pain during the pelvic exam, which could be due to the degree of inflammation and the positioning of her appendix. The key take-away point is to have a high index of suspicion for appendicitis for pediatric patients with abdominal pain given their atypical presentation.
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Appendicitis is the most common condition in children requiring immediate surgical intervention, but often presents differently than in adults (especially in infants). Aspects of their atypical presentation include lack of migration of pain to the RLQ, negative Rovsing’s sign, and involuntary guarding and fever without perforation. In school-age children who can articulate the pain, they often describe pain with movement or coughing (cat’s eye sign). Also, rebound tenderness was found to be neither sensitive nor specific in the pediatric population, while in the adult population it is one of the most accurate PE findings (86%). Luanne is of the older pediatric population, and so will present with a more typical appendicitis. Her sudden onset of intense pain at the umbilicus with vomiting, anorexia, and tenderness at McBurney’s point are all classic findings. The more atypical signs include diffuse pain centered below the umbilicus, and rebound tenderness that might point to a perforation (more likely, it is part of the atypical pediatric presentation given her normal WBC study). Another atypical aspect of her exam is her adnexal pain during the pelvic exam, which could be due to the degree of inflammation and the positioning of her appendix. The key take-away point is to have a high index of suspicion for appendicitis for pediatric patients with abdominal pain given their atypical presentation.
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Arrange for hospitalization. This patient has signs and symptoms of PID. Cervical discharge should be tested for gonorrhea and chlamydia and sent for culture. As she is a homeless patient, she is at high risk for failure to complete her antibiotic course. Given the deleterious sequelae of incompletely treated PID, she should be hospitalized in order to ensure a full course of treatment. |
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A 6-year-old boy presents to the ED with three days of diffuse muscle aches and occasional chills. Today, he had a headache and abdominal pain. He reports that he does not feel hungry because he feels sick to his stomach. He denies recent cough, congestion, sore throat, joint pains, or sick contacts. His vitals are: T 101.3 F, BP 108/71 mmHg, P 110 bpm, R 28 bpm, O2 sat 100% on RA. On physical exam, you notice blanching, erythematous macules on his ankles and several petechiae on his wrists. Upon questioning, his mother says that the spots on his wrists previously looked like the spots on his ankles. His neck is supple and there is no hepatosplenomegaly or lymphadenopathy. He reports no sick contacts, but recently visited his cousins in North Carolina. What is the best next step in management?
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Admit the patient, obtain CBC, blood and CSF cultures, then give loading doses of doxycycline 2.2 mg/kg and ceftriaxone 100 mg/kg/day Given the patient’s abdominal pain, headaches, myalgias, fever, and nausea, followed by blanching erythematous macules, which may be transitioning to petechiae and purpura, this presentation is classic for RMSF. His recent travel to North Carolina also fits with the geographical distribution of RMSF. The treatment of choice is doxycycline. N. meningiditis coverage with ceftriaxone is also necessary given his rash, headaches, and fevers. |
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The mother of a 5-year-old boy calls your office asking if she should take her son to the emergency room or wait another day. She states that her son suddenly developed a “high fever” and is extremely tired. When you ask about her son’s behavior, she states that he also seems very confused. She also noticed he had developed reddish-purplish spots on his extremities. What is the next best step in management of this patient?
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Go to the ER. This patient is exhibiting signs of sepsis, more specifically, of meningococcemia. Although it is important to replenish this patient’s fluids and control his fever, it should not be done in an outpatient setting. This is a medical emergency! Sepsis can lead to altered mental status. Signs and symptoms of sepsis include: fever, nausea, vomiting, diarrhea, apnea/dyspnea, oliguria, pallor, tachypnea, tachycardia, lethargy, irritability, petechiae, purpura, tremors, and seizures.
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A previously healthy 14-year-old female presents to the ED with a one-day history of fever and altered mental status. Vital signs on presentation include: BP 120/70 mmHg, HR 145 bpm, RR 42 bpm, temp 39.7 C, oxygen sat 93%. Physical exam reveals nuchal rigidity, cool extremities, 1+ distal pulses, diffuse petechial rash, and capillary refill > 2 seconds. What is the important first step in management?
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his patient is in septic shock due to meningococcal infection and should immediately be started on IV fluids in order to maintain perfusion to vital organ systems. Although this patient has a normal blood pressure, other vital signs and physical examination point to shock (HR and RR are both significantly elevated), which first and foremost requires fluid resuscitation.
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A 12-day-old baby girl is brought to the ED by her foster mother due to fussiness and tactile fevers. The baby's teenage biological mother did not receive prenatal care and delivered her baby at home. On further questioning, you find out that the patient has had only two wet diapers per day and two loose green stools per day. On exam, the patient is irritable and her anterior fontanelle is tense. Which of the following diagnoses are of emergent concern at this time?
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The patient's mother did not have prenatal care and likely did not have screening for group B strep during pregnancy. She also delivered at home and would not have had access to antibiotics during delivery. Group B strep is a common and serious cause of sepsis and meningitis in newborns.
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An 11-month-old boy is brought to the ED by ambulance. His father called 911 after the patient’s eyes deviated to the left as his arms and legs were twitching. During this time he was unresponsive. He has had a tactile fever for three days, and parents mention that he has not been as playful as usual during this time as well. His parents have not had him vaccinated due to personal beliefs. In the ED his vital signs are T 39.1°C, HR 155 bpm, RR 28 bpm, BP 100/65 mmHg, O2 100% (on RA). He does not cry but whimpers during most of your physical exam (including when you look in his ears). You order a CBC and metabolic panel, which are significant for a leukocytosis with a left shift and mild acidosis. Urinalysis and blood/urine cultures are pending. Which of the following additional studies would you obtain?
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LP In a young child with fever and altered level of consciousness we should always have a high suspicion for meningitis. This patient’s parents expressed concerns about his behavior at home before his seizure, and his mental status during your examination is not normal. While very few patients presenting with febrile seizure actually have meningitis, this patient’s lack of immunizations put him at increased risk. Furthermore, clinical signs of meningitis in patients under 12 months of age can be very subtle, and so a high level of suspicion is important. A lumbar puncture will help rule in or out meningitis and guide treatment. Note that in some cases the clinician will request a head CT prior to performing a lumbar puncture if there are concerns about increased intracranial pressure. A head CT in itself may not be helpful in the evaluation of a patient with a seizure, although it may be useful in cases where trauma is suspected, or to look for calcifications (such as with cytomegalovirus infection or tuberous sclerosis). |
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A 2-year-old female with normal birth and developmental history presents with increased agitation and decreased arousability. Her father suffers from chronic pain secondary to a back injury, and her mother found an open container of pills on the bed. Vitals reflect bradycardia, bradypnea, hypotension, and slight hypothermia. On physical exam, she exhibits somnolence, constricted pupils, hypoactive bowel sounds, and hyporeflexia. What substance was most likely ingested?
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Hydromorphone is correct. Opioids such as hydromorphone can cause respiratory depression, bradycardia, hypotension, hypothermia, constipation, nausea, vomiting, sedation, confusion, and/or miosis.
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A 2-year-old male presents to the ED with a 5-hour history of hyperactivity, fever, and sweating. His BP is 160/90 mmHg, HR 130 bpm, RR 30 bpm. On exam, he has dilated pupils, cool skin, and hyperreflexia. What is his most likely accidental medication ingestion?
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pseudoephedrine. Ingestion of a sympathomimetic like pseudoephedrine stimulates the beta and alpha adrenergic receptors, causing elevated HR, RR, BP and hypothermia along with diaphoresis, dilated pupils, hyperreflexia, and hyperactivity. |
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You are working in the pediatric ED when a 3-year-old girl, Jenny, presents with altered mental status for the past six hours. Her mother reports that the babysitter called her at work today after Jenny started acting agitated and “looking very sick.” The mother reports “she feels so warm, I think she has a fever and has become dehydrated.” On exam, the patient is agitated and anxious with dilated pupils. Her skin is warm and dry. Vitals reveal tachycardia and hypotension. You suspect the child may have accidentally ingested one of her mother’s medications. An overdose of which of the following medications could cause Jenny’s symptoms? Tricyclic antidepressantBSSRICDecongestantDAcetaminophenEACE inhibitor
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Tricyclic antidepressant (TCA) is correct. TCA toxicity presents with agitation, tachycardia, hypotension, dilated pupils, and hot, dry skin from the anticholinergic effects of TCAs.
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A 2-year-old male is brought into the ED by his mother because of vomiting and altered mental status. He has pinpoint pupils and seems to be drooling and sweating uncontrollably. His heart rate is 60 bpm, his respiratory rate is 45 bpm, and he seems to have difficulty breathing. Which ingestion is the most likely cause of his symptoms? OrganophosphatesB Tricyclic antidepressantC BarbituratesD CodeineE Pseudoephedrine |
. Organophosphates cause cholinergic effects, such as miosis, sweating, lacrimation, salivation, urination, increased gastric mobility (vomiting, diarrhea), muscle twitching, bronchospasm, bradycardia, and seizures. A good mnemonic is SLUDGE (salivation, lacrimation, urination, defecation, GI mobility, emesis).
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An 18-year-old mother with her 3-month-old son arrives at urgent care clinic with a chief complaint of “my baby stopped breathing!” She and her baby are rushed into a triage room, where her son is noted to be very lethargic with increased work of breathing. As vital signs are being obtained, the mother reports “my baby stopped breathing in the car coming here, and didn’t start again until I reached over and jostled his car seat!” Mom then shared that “my boyfriend said he rolled off the couch last night. Could it be related?” Mom also stated that her son hasn’t been as active as usual, and has been vomiting occasionally. Physical exam is notable for a respiratory rate of 70 bpm with intercostal retractions and crackles in the right lower lung fields posteriorly. You admit this patient with the diagnosis of pneumonia for empiric antibiotics and support, pending additional evaluation. CXR subsequently demonstrates a RLL infiltrate and faint, vertical lines on several posterior ribs bilaterally. What is the best next step in management?
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In this case a skeletal survey is essential. Posterior rib fractures are always concerning findings. While treatment of the patient’s pneumonia has been initiated, a complete skeletal survey will screen for other worrisome findings, including multiple fractures in different stages of healing, fracture of the femur or tibia in a non-walking child, and skull fractures.
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A 2-month-old male is brought to the ED after his mother found him in his crib not breathing. She says he had no color and was still when she found him, but quickly regained his color. While you are examining him he starts having a tonic-clonic seizure and subsequently is found to have a temperature of 96 F, HR 200 bpm, and RR 18 bpm. On exam he cries intermittently, does not track you with his eyes, has a tense, full fontanelle, and decreased tone throughout. You also notice a healing bruise on his left arm. After assessing circulation, airway, and breathing you obtain IV access. What is the next step in your diagnostic workup?
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Head CT This choice is correct because head CT is highly sensitive for an intracranial bleed, such as a subdural hematoma, can be quickly carried out in the emergency setting, and may require urgent intervention. |
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A 10-month-old male is brought to the emergency room by his very concerned and frantic grandmother. Earlier that day, she retrieved the child from his mother's new boyfriend, who had been watching him while his mother was at work. The grandmother makes it very clear she does not approve of this new boyfriend, and she is concerned that he is rough with her grandson. She demands that her grandson be worked up for injuries and that a restraining order be placed against the boyfriend. Which of the following finding does NOT indicate that a child is being physically abused? Retinal hemorrhages, concave-crescent snapped mass on CT, spiral fractures of the tibia, posterior rib fractures, metaphyseal fracture of the wrist? |
Also called a "toddler’s fracture," fracture of the tibia is a commonly occurring fracture in young, ambulatory kids. It is not a sign of abuse. Toddler’s fracture is described as a subtle, non-displaced oblique fracture of the distal tibia in kids aged 9 months to 3 years. The child will usually present with acute onset of limp and refusal to bear weight on one leg. It usually occurs when a toddler falls while twisting, or gets a foot caught and falls while trying to free the foot.
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A 5-month-old male presents to urgent care with his mother who states that she witnessed her son stop breathing and turn blue for about 25 seconds. Upon physical stimulation by the mother, the patient began to breathe again. This is the first time she has ever witnessed this happening. The patient’s birth and past medical history are unremarkable. Physical exam is unremarkable, vital signs are stable and normal, and lab studies are all within normal limits. Which of the following is LEAST likely to be on the differential diagnosis as a cause for this patient’s ALTE (apparent life threatening event)? |
it is unlikely for a patient with congenital heart disease to first present with an ALTE. This patient has no past medical history and his birth history was unremarkable. Typically the patient will suffer from acute decompensation within the first few weeks of life. These patients will also have growth problems, difficulty with feeding and a murmur is often appreciated on physical exam. Children with undiagnosed Tetraology of Fallot may have intermittent episodes of cyanosis while blood supply is diverted from the pulmonary vasculature.
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A young couple presents to the ED with their 2-month-old son complaining of excessive sleepiness and difficulty arousing him after his nap. Per the parents, the PMH and prenatal course are unremarkable, except that the patient has always been very fussy and would often cry despite being held and cradled. He is cared for during the day by his babysitter. Today he had been in his usual state of fussiness when the babysitter arrived, and they returned to find him napping quietly in his cradle but could not arouse him from sleep when it came time for his feeds. He finally opened his eyes after several minutes of gentle nudging but seemed to quickly fall asleep again. On exam, patient is afebrile with poor tone and is only mildly responsive to painful stimuli. Eye exam shows dilated pupils and an ophthalmology consult reveals retinal hemorrhages.
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Closed head injuries and retinal hemorrhages in infants and children are secondary to violent shaking or throwing, resulting in tearing of the bridging vessels. Retinal hemorrhages, as seen in our patient, are pathognomonic for shaken baby syndrome. Other signs and symptoms include stiffness, constant crying, seizures, difficulty to arouse, decreased appetite and excessive sleeping. Victims often have no other signs of physical abuse (e.g., bruises).
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A 4-week-old female infant presents to clinic for a well child check. This infant had an uneventful delivery by NSVD at full term and subsequent normal neonatal screen. The nurse reports that her growth is a concern, with weight at 3.0 kg (< 3rd percentile) and weight for height at < 3rd percentile. Mom denies any drinking or drugs since before this pregnancy and says she has been breastfeeding every two to three hours and supplementing with appropriately mixed formula one to two times a day. She does report the baby seems to have issues latching and some possible gasping between suckles. There has been no diarrhea, hematochezia, vomiting, or fevers. The vital signs and exam (apart from a thin infant) are normal. The mother’s affect is flat, and she seems anxious when you ask her about her infant. What is the most likely diagnosis for this infant’s failure to thrive?
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Failure to thrive due to inadequate caloric intake This infant is likely not consuming adequate calories to grow. The mother or primary caregiver may neglect proper feeding of the infant because of preoccupation with the demands or care of others, her own emotional problems, substance abuse, lack of knowledge about proper feeding, or lack of understanding of the infant’s needs. It is also important to assess the mother for post-partum depression. Standardized screening tools, such as the Edinburgh, are used routinely in pediatric office settings for this purpose. |
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A full-term, 6-week-old baby is brought to the family physician for routine follow-up. At birth her weight, height, and head circumference were at the 50th percentile; she is now at the 5th, 10th, and 25th percentiles, respectively. She and her twin sister are exclusively breastfed; their mother has maintained a rigid every-four-hour feeding schedule since birth. Physical exam reveals a thin but otherwise healthy infant. What is the most likely cause of this infant’s failure to thrive?
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Inadequate caloric intake Inadequate caloric intake is correct because it is the most common cause of FTT. Furthermore, we have reason to believe that this particular infant is not receiving adequate calories. Breastfed infants should eat every two to three hours until 3 months of age; this infant eats every four hours and shares the milk supply with her twin. Twins can thrive on exclusive breastfeeding, but it requires that the mother consume extra fluids and calories and ensure that the twins both get enough to eat. |
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On your first day rotating in the pediatric clinics, you are assigned to see a patient who is 9 weeks old and was brought into clinic by his worried mother. She states that her son has not gained weight since they left the hospital. His weight is < 5th percentile, and height and head circumference are at the 25th percentile. His mother says he drinks two ounces of milk every two to three hours, and suckling is strong without any spitting up during feeds. He poops more than 10 times a day, but it appears greasy and foul smelling. He had an unremarkable birth history and a normal newborn screen. Cardiac, pulmonary, abdominal, and neurologic exams are all normal. His mother mentions her cousin had trouble gaining weight and would get frequent “lung infections.” Which of the following is the best next step in management?
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Sweat chloride test The patient's greasy and foul-smelling stool is characteristic of steatorrhea, or fat in the stool. This occurs in patients with cystic fibrosis due to their impaired pancreatic exocrine function. Given the stool history in the face of failure to thrive, a sweat chloride test would be indicated at tis time. Of note, the family history of poor weight gain in a cousin with frequent lung infections also suggests the possibility of cystic fibrosis–related bronchiectasis. Cystic fibrosis should still be suspected in the child who has a normal newborn screen. States differ in the type of test offered to screen for cystic fibrosis, and although great strides have been made in newborn detection, methods are not 100% sensitive. |
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A 6-month-old baby boy is referred to your clinic because he has not been gaining weight appropriately. His mother denies any difficulty with feeding or reduced appetite, yet his weight has still dropped from the 30th to the 3rd percentile. Mother also complains that he has loose, malodorous stools. After a thorough workup, a diagnosis of cystic fibrosis (CF) is made. Which of the following is a TRUE statement regarding CF? ACF is an autosomal dominant disorderBCF is caused by a mutation in CFTR, resulting in defective salt balanceCCF is a disease that exclusively involves the respiratory systemDGene therapy is now the primary source of CF therapyEIt is important to provide calories at a lower level than recommended dietary allowance for a given age in order to prevent GI upset |
B The mutation in CFTR gene results in defective salt balance. CF is caused by mutations in a single large gene on chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Clinical disease requires disease-causing mutations in both copies of the CFTR gene. |
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Casey’s parents just learned that Casey’s screening test for CF was abnormal. What other signs and symptoms might you expect this patient to develop? |
D. CF causes exocrine insufficiency and ultimately results in fat malabsorption. This causes frequent foul-smelling and greasy stools. |
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A 2-year-old female is brought to the ED by her mother because of increasingly frequent abdominal pain. She has been experiencing this pain on and off for the past year, along with increasing abdominal distention, vomiting, and diarrhea. You chart her height and weight, and find that she is below the 5th percentile for both. IgA tissue transglutaminase (TTG) antibody returns positive. What is the best treatment for this patient? AAntibiotic treatmentBGluten-free dietCCorticosteroidsDPain managementEMetronidazole |
A gluten-free diet is the best way to manage celiac disease. Celiac disease can present with chronic abdominal pain, vomiting, abdominal distention, and diarrhea. Growth failure can result from malabsorption or anorexia. Anemia may also result from occult GI bleeding, although frank blood in the stool is rare. The IgA tissue transglutaminase antibody titer is a very sensitive and specific test for this disease.
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An 11-year-old male comes to the clinic with a chief complaint of abdominal pain for three months. The pain is not associated with eating. Sometimes he feels full and nauseated, along with the pain, but then it resolves on its own. He denies diarrhea, vomiting, and bloody stools. His mother is primarily concerned because his abdominal pains cause him to miss school quite often now. ROS is otherwise negative and the only pertinent issue is his pain. When you evaluate his growth curves, he is progressing at the 60th percentile for height and weight and you do not notice a change since birth. Through a social history you ascertain that he is quite intelligent and has recently been advanced to 7th grade from 5th grade. Vital signs are within normal limits for his age and physical exam (including rectal and genital) are unremarkable. Stool sample was sent in anticipation of today’s visit and was negative for occult blood. What is the most likely cause for his abdominal pain?
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. Functional abdominal pain would be the most likely diagnosis in this setting at this time. History in this setting is not suggestive of any other diagnosis directly causing his abdominal pain, except a change in his social setting. For better understanding of the nature of this child’s pain, it would be best to talk to him alone, without his mother present, to determine if he is having trouble adjusting to school and to assess whether he has a stable home environment. His pain is chronic, with no other symptoms (diarrhea, bloody stools, growth failure), making a functional issue most likely.
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Mark is a 7-year-old boy who presents to your clinic with recurrent abdominal pain for the last 5 months. His pain was intermittent but progressed over the last 2 weeks. He complains of diffuse abdominal pain that feels like cramps. He has recent onset of diarrhea with gross blood. He is afebrile in the clinic. On physical exam, he is found to have pallor and mild tenderness in the LLQ and RLQ. When you plot his weight and height on his growth chart, you notice he has “fallen off the curve.” His labs show a normal WBC count but decreased hemoglobin and hematocrit. Biopsies taken from the terminal ileum during colonoscopy show transmural inflammation. Which of the following is the best first line of treatment for this patient?
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5-ASA his patient’s clinical presentation and biopsy results are consistent with Crohn's disease (CD). You would expect transmural inflammation in Crohn's (as opposed to inflammation limited to mostly mucosa in ulcerative colitis). First-line therapy for CD is 5-aminosalicylic acid. Patients who have incomplete response may be treated with corticosteroids, antibiotics, immunomodulators such as azathiprine, 6-mercaptopurine, or biologics such as Infliximab, a monoclonal antibody to TNF-alpha. |
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8-year-old Jenny presents complaining of intermittent, crampy abdominal pain that has persisted over the last three months. The pain is nonspecific, nonfocal, and not associated with any other systemic symptoms such as fever, chills, weight loss, nausea, vomiting or diarrhea. The pain also seems to occur more frequently during the week and not as often on weekends. The abdominal exam is normal. Jenny is given a diagnosis of functional abdominal pain and scheduled for a one-month follow-up. Six months later, she returns to the clinic complaining of more frequent, more severe abdominal pain that is waking her up at night. She also reports a week of diarrhea containing mucus and blood without associated fever or vomiting. Review of her growth chart demonstrates a slowing of weight gain and a drop in height velocity. What is the most likely diagnosis?
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Crohn’s disease is most consistent with this presentation, as it affects GI tract from mouth to anus, leading to abdominal pain, diarrhea (can be bloody), vomiting, or weight loss. Extraintestinal symptoms include skin rashes, arthritis, and fatigue. Fever, fistula, and perianal complications are also common.
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Kenny is a 12 year-old male who comes to your clinic with a chief complaint of crampy abdominal pain. His mother tells you that sometimes he wakes up from sleep due to the pain. He also has diarrhea that sometimes has blood in it. When asked about stressors in his life, his mother sighs and tells you that she is recently divorced and had to move Kenny to a new school. On physical exam, he appears small for his age. Abdomen is soft, non-distended, but tender to palpation at the RUQ. On rectal exam, you note anal skin tags and an anal fistula. Skin exam shows red tender nodules on his shins. Labs show a microcytic anemia. What is the next best step in management?
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Colonoscopy is the best answer. Kenny likely has IBD (Crohn’s disease or ulcerative colitis [UC]). He has crampy abdominal pain and intermittently bloody diarrhea, crampy abdominal pain (that wakes him up at night), perianal disease, and erythema nodosum. He also has microcytic anemia, likely from chronic blood loss. Colonoscopy with biopsies will allow you to diagnose Crohn’s disease (or UC) prior to treating it. The diagnosis begins with a colonoscopy to obtain tissue biopsies as well as blood tests (p-ANCA, ASCA).
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When you are at your preceptor’s office, you are told to see Amy, a 20-month-old female diagnosed with cerebral palsy (CP) at the last visit. Your preceptor knows that you just had your lecture on CP and tries to have you figure out which type of CP Amy has. She tells you that Amy was born at full term but had severe jaundice and required extensive treatment for hyperbilirubinemia, including an exchange transfusion. She now has slow and uncontrolled movements throughout her body. Her brain MRI shows some atrophy of the basal ganglia. What type of CP does Amy have?
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Dyskinetic cerebral palsy This choice is correct because dyskinetic CP is associated with kernicterus, due to hyperbilirubinemia, as well as findings of basal ganglia pathology on imaging. Patients typically have motor abnormalities throughout the body. Dyskinetic CP is also associated with perinatal asphyxia and can involve the thalamus and cerebellum on imaging. |
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Spastic Diplegia CP
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spastic diplegia is classically associated with premature birth and specific MRI findings of periventricular white matter abnormalities. Patients present with motor involvement that is more prominent in the legs than the arms.
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Spastic quadriplegia CP
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spastic quadiplegia have spasticity, clonus, and exaggerated tendon jerks throughout their bodies. Imaging would show global brain abnormalities.
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Johnny is brought to your office by his parents for his 18-month well child check. His family recently moved into town, and this is the first time you are seeing him. Per mom, he was born at 32 weeks, and the details of his neonatal course are not clear. Parents share that he is not walking and they are very concerned. Johnny has met his social and language developmental milestones. Physical exam reveals spasticity, exaggerated deep tendon reflexes, and clonus in both of his lower extremities. An MRI of the brain is ordered, and the radiologist reports findings of periventricular leukomalacia. What is the most likely diagnosis?
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Spastic diplegia is a form of cerebral palsy, a non-progressive static encephalopathy characterized by delays in motor development. It may be associated with periventricular white matter abnormalities that are thought to be due to ischemia. These changes can be visualized on MRI. In spastic diplegia, the motor abnormalities are often greater in the legs than in the arms.
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A 15-month-old is able to stand on his own, walk backward, and throw objects underhand. He is unable to draw/scribble or grasp markers. He can say one syllable words “ma” and “da” but his words are unintelligible. He holds a sippy cup with help. He does come when called, plays with a ball and waves bye-bye by imitating his parents. Does this baby have developmental delay, and, if so, within which domains?
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Fine motor and language delay Correct. A 15-month-old child should be able to scribble, use a cup, and/or stack 2 blocks. His word count should be three to six words at this stage of development. |
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An 18-month-old male comes to the clinic for a well-child check. His mother says he is a happy boy and endorses no complaints. She notes that he was born a few weeks early via emergency C-section and spent two months in the NICU. She says he is feeding well and gaining weight. When you ask about developmental milestones, you find out that that he pulls himself up to stand, but is not walking yet. He has several words and is interactive. There is no family history of disease during infancy. He is up to date on his immunizations. He is one of five children and his parents are currently experiencing difficult financial times. Exam reveals increased tone and hyperreflexia in his lower extremities. What is the most likely diagnosis of his developmental delay (if any)?
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Cerebral Palsy This choice is correct. Children with cerebral palsy often present with defects in motor development and are often found to have abnormal neuromuscular exams, including increased tone and reflexes. Other areas of development are less consistently impacted. The cerebral palsy most likely was the result of an hypoxic injury during the perinatal period. |
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A 4-year-old male with a history of Down syndrome and no other medical problems is brought to his pediatrician’s office by his mother for increasing fatigue, intermittent fever, and decreased appetite for one week. On exam you note conjunctival pallor and hepatosplenomegaly. What is the best next step in the management of this patient?
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Send CBC and peripheral smear This choice is correct because fatigue, decreased appetite, anemia, and HSM are all clinical signs and symptoms that may be associated with acute leukemia, for which patients with Down syndrome are at increased risk. A CBC would be helpful both for assessing the white blood cell count as well as the degree of anemia. A peripheral smear would be indicated to further evaluate for leukemia. |
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You are called to the delivery of an infant boy experiencing fetal distress. After a vaginal delivery with vacuum assist, the infant cries spontaneously but remains acrocyanotic, despite supplemental oxygen delivered by mask. The neonate is hypotonic and moves his extremities only in response to noxious stimuli. Physical exam reveals an open mouth with a protruding tongue, upslanting palpebral fissures, low-set ears, and a transverse crease across both palms. You immediately recognize this syndrome, and your attending asks you what is the most common cardiac defect in these patients?
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Endocardial cushion defects. This patient has physical signs of Down syndrome. Approximately 50% of children with Down syndrome are born with endocardial cushion defects, such as ventricular septal defect, atrial septal defect, or complete atrioventricular canal defect.
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You are on the nursery service when your team is called to evaluate a 1-day-old infant. The infant was born via NSVD at 40 weeks' gestation to a 38-year-old G1P1A0 mother who did not have access to prenatal care and did not receive prenatal testing. The infant weighed 7 lbs 12 oz at birth and had Apgar scores of 7 and 8. On exam the infant is sleeping comfortably. She is afebrile with normal vital signs but appears to have low tone on exam. You also notice her ears seem to be lower than her eyes and appreciate mild edema of the hands and feet. Additionally, you note a fluid-filled sac at the base of the neck that does not appear to interfere with breathing. A karyotype performed after birth reveals a chromosomal abnormality. Which of the following is the most likely cause of this patient’s condition? |
Turner syndrome is correct. Turner syndrome is defined by the karyotype 45 XO. Characteristics of females with Turner syndrome include renal abnormalities, lymphedema (causing edema of hands and feet), low-set ears, congenital heart defects, dental abnormalities—such as narrow or high-arched palates—and cystic hygromas. Other possible physical findings include a webbed neck, widely-spaced nipples, and shield-like chest. As this mother did not have prenatal testing or a karyotype performed previous to her daughter’s birth, one should be performed to confirm the diagnosis.
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A 39-year-old G2P1 woman with a pre-pubertal 10-year-old boy with intellectual disability comes to the clinic for information on prenatal screening. The 10-year-old boy was born with large ears and long face but no other congenital malformations. The mother is worried that she will have a second child with similar problems. If she were to have a second male child with developmental impairment, what would be the most likely reason if maternal serum testing and fetal ultrasound were both normal?
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Fragile X syndrome is the most common familiar cause of developmental impairment and is due to an abnormal number of trinucleotide repeats. These children present with large ears, long face and mandible and, after puberty, large testicles.
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A 4-day-old male infant was born by vaginal delivery to a 35-year-old G1P1 who declined prenatal screening. The infant has mild hypotonia, epicanthal folds, upslanting palpebral fissures and a flat face. On physical exam, he is in no acute distress, has normal oxygen saturation and has a continuous murmur. Lymphocyte karyotyping showed a particular change in chromosome number. What genetic abnormality is most likely?
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Trisomy 21 extra chromosome 21 is indicative of Down syndrome. Patients with Down syndrome will present with the features described in the vignette as well as small ears, redundant nuchal skin, clinodactyly (the fifth digit is shorter and curved toward the radius). Additionally, cleft lip or palate, strabismus, and hypothyroidism may be seen. |
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A 5-year-old African-American male with sickle cell disease presents to clinic with a chief complaint of severe chest pain for the past day. His mother notes that he has been breathing quickly and that she measured his temperature this morning to be 100.5 F. Patient describes pain as an 8/10 on the faces scale. Patient is tachypneic on exam and has an oxygen saturation of 97% on room air. Chest exam reveals normal lung sounds bilaterally, and he has some reproducible tenderness over his chest wall. A chest x-ray is performed and demonstrates clear lung fields and a cardiac silhouette that is within normal limits. What is the most likely cause of the chest pain?
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Rib infarction is correct because of the chest pain in the setting of a history of sickle cell disease with normal oxygen saturation and clear lung fields on chest x-ray. Osteomyelitis and painful vaso-occlusive crises represent the most common reasons for admission for sickle cell disease patients. Rib infarction may lead to a picture similar to ACS as the pain can lead to hypoventilation, which may result in atelectasis and the characteristic radiographic findings of ACS. However, no radiographic findings are present in this patient. As a result, rib infarction is the most likely etiology
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Acute Chest Syndrome
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Would present with decreased O2 stats. Lung markings on chest x-ray suggestive of ACS would include pulmonary infiltrates, atelectasis, and effusion. Causes of ACS include infection, pulmonary fat embolism, or intrapulmonary sickling. Typical therapy may involve supplemental oxygen, pain management, hydration, antibiotics and possibly transfusion. |
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A 4-year-old patient with sickle cell disease presents for a well child evaluation. She has a history of three sickle cell vaso-occlusive crises in the past, including dactylitis and bone pain. She has been symptom-free for a few months and today she is feeling well. She is meeting her developmental milestones. She had an upper respiratory infection recently, but seems to be getting better now. She is up to date on her standard vaccinations up to 2 years including a full course (four doses) of Prevnar. What would you do for her today?
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A dose of pneumococcal polysaccharide vaccine (Pneumovax). All children should routinely receive the Prevnar vaccine series. Patients with risk factors for pneumococcal sepsis, such as those with sickle cell disease, damaged spleen or asplenia, cochlear implants, CSF leaks, HIV, immunocompromise, chronic hear/lung disease, or those taking immunosuppressive medication should also receive the 23-valent polysaccharide pneumococcal vaccine at age 2 years. |
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You are a resident in the ED who is caring for a 2-year-old male with a history of sickle cell disease who presents with a chief complaint of difficulty breathing. His mother tells you that he has been having chest pain and shortness of breath since he woke up this morning. His mother also noticed that he has not wanted to eat as much and has been a little fatigued over the past few days. He is noted to have a temperature of 39.5 C. On exam, he is tachypneic with nasal flaring and has decreased breath sounds bilaterally. He is also noted to have splenomegaly. Chest x-ray reveals bilateral infiltrates in the lower and middle lobes. A diagnosis of acute chest syndrome is made, and the patient is given supplemental oxygen. What is the best next step in management of this patient while he is in the ED?
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IV fluids at 1.5 times normal maintenance IV fluids at 1.5 times normal maintenance is correct because dehydration is this patient may be contributing to his vaso-occlusive crisis through hemoglobin polymerization and increased RBC sickling. As this patient has increased insensible fluid losses from his tachypnea and fever, he is at an increased risk for dehydration, which is likely made worse by decreased PO intake. Caution should be taken to not overhydrate sickle cell patients with ACS, as this can quickly lead to volume overload and pulmonary edema. |
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You are notified that a 10-day-old patient in your practice had a newborn hemoglobin screen positive for sickle cell disease. Pregnancy and delivery were uncomplicated. Mother is 19 years old and works as a nurses' assistant at a nursing home. When questioned, she says she remembers her grandmother died of chest pain and a lung infection. Which of the following should be ordered next for the baby?
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Antibiotics. This newborn has sickle cell disease. Her grandmother likely passed away from acute chest syndrome, a common complication of this disease. Due to decreased splenic function and consequent decreased resistance to infection with encapsulated organisms (Streptococcus pneumoniae, Haemophilus influenzae type b, Neisseria meningitidis), infants and young children with sickle cell disease are at increased risk for sepsis. When given to infants with sickling disorders, penicillin significantly decreases the risk of mortality from overwhelming sepsis. Prophylaxis is usually continued until the child is five or six years of age (after this, there is little data to support its use except in patients who have had documented sepsis and bacteremia, or who have had their spleens removed).
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Devin is a 2-year-old African-American boy with sickle cell disease. Today his parents brought him to the ED because he was not feeling well. His mother reports that he has been very tired for the past week. Vitals show a temperature of 39°C, BP of 120/75 mmHg, RR of 24 bpm, and HR of 104 bpm. On physical examination he is ill appearing. His conjunctivae appear pale, and his sclerae are anicteric. Lungs are clear to auscultation. His abdominal exam is benign (non-tender, non-distended, with no organomegaly). His extremities are non-tender upon palpation. His nailbeds appear pale. Stat CBC reveals Hgb: 4.5 g/dL, Hct 15%, WBC 1800, and platelets 88,000. Mother is concerned as she has never seen him so ill before. What is the most likely cause of his new symptoms?
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Aplastic Anemia Parvovirus B19 causes aplastic anemia, especially in children with shortened RBC half-life. A mild anemia associated with parvovirus often goes unnoticed in healthy children. However, in patients with decreased RBC survival, such as sickle-cell patients, anemia can develop very rapidly and severely, along with decreases in the other cell lines (resulting in leukopenia and thrombocytopenia). In the above presentation, the presence of fever in a child with sickle cell disease should also raise concern for significant bacterial infection from encapsulated organisms like pneumococcus. This patient should have a blood culture and be started on empiric antimicrobial therapy pending screen labs and cultures. |
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An 8-year-old boy presents with tea-colored urine, oliguria, joint pain, hypertension, and generalized edema. One month ago, he presented with fever and sore throat, headache, abdominal pain, strawberry tongue, papular sandpaper rash. At that time, he did not have runny nose, congestion or cough. He was treated with appropriate antibiotics for his symptoms and made a full recovery. Which of the following diagnostic findings supports his new symptoms?
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Low C3 C3 is decreased in PSGN. This value will return to normal six to eight weeks after presentation of PSGN symptoms. Although this patient was treated appropriately for his strep throat, treatment does not prevent PSGN. However, timely and appropriate treatment of strep throat will prevent development of rheumatic fever. |
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A 6-year-old male comes to the clinic with a chief complaint of scrotal swelling, recent weight gain, and decreased appetite. Vital signs are stable and there is no evidence of cardiac disease or jaundice. Further workup reveals proteinuria, hyperalbuminemia, and hyperlipidemia, consistent with nephrotic syndrome. Which of the following histological patterns is most likely to be seen on light microscopy?
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Normal glomeruli with minimal increase in mesangial cells and matrix This choice is correct because it describes the histology seen in minimal change disease. Histologically, minimal change disease is characterized by normal glomeruli on light microscopy. Minimal change disease is the most likely diagnosis of nephrotic syndrome between the ages of 1 and 10 years old, accounting for up to 85% of cases. |
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Katie is a 5-year-old girl with 10-day history of swelling of her face, especially around the eyes. Her mother has also noticed that her pants have become too tight for her, and that she has gained nearly 5 pounds despite a decreased appetite. About a week prior to the start of the swelling, her mother recollects an episode of rhinorrhea, cough, and sore throat. Urinalysis shows no red blood cells or casts, but you have no other data from urinalysis due to a lab error. On exam, temperature is 98.8 F, heart rate is 95 bpm, blood pressure is 95/65 mmHg. Her face is diffusely swollen. Heart and lung exams are normal. Abdominal exam shows some abdominal fullness but no masses or organomegaly. Both feet appear slightly puffy. Which of the following is the most likely cause?
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Nephrotic Syndrome The constellation of history and physical exam findings, with a recent viral infection and subsequent edema, suggests nephrotic syndrome. Minimal change disease is the most common form of nephrosis in pediatrics. Changes in the podocytes of the glomerular apparatus allow significant proteinuria (> 3.5 g/day), which leads to hypoalbuminemia and eventually interstitial edema and ascites. This would explain the patient's periorbital swelling, increasing abdominal girth (ascites), and weight gain (pure fluid overload). |
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Brian, a 5-year-old boy with swelling around both his eyes and an abdomen that looks “bigger than normal,” is brought in by his mother to your preceptor’s office. Mom explains that she noticed the puffy eyes and bigger belly starting the week before. It seemed to appear out of nowhere, and Brian has been completely healthy except he had a cold several days before these symptoms developed. When you ask Brian if he has noticed anything else weird, he says that his “pee-pee looks like Coca-cola,” at which point his mom scowls and tells him to stop being silly. His blood pressure taken by the nurse right before entering the room is elevated. Based on the above information, which of the following does Brian likely have?
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Acute glomerulonephritis would explain all aspects of Brian’s presentation. The disease presents with gross hematuria (which most patients describe as tea-colored or cola-colored), periorbital swelling and ascites due to hypoalbuminemia, and hypertension due to intravascular fluid overload. Additionally, acute glomerulonephritis frequently follows a URI.
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A 7-year-old girl is brought to her pediatrician because of recurrent puffy eyes. She presented one week ago because of the same problem and was diagnosed with allergies. She was started on an intranasal steroid with no relief. Her mother states she has become increasingly tired and mentions that she has recently outgrown all of her shoes. The patient has no other symptoms and is at the 50th percentile for height and weight, is afebrile, and non-toxic appearing. Her heart and lung exam are normal. She has no hepatomegaly and no evidence of rash. What is your next step in diagnosis/management?
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Urinalysis Because of the high suspicion of nephrotic syndrome, a urinanalysis would be the next step in diagnosis. This patient has symptoms of periorbital edema, lethargy, and pedal edema (she quickly outgrew her shoes). This test can be done in an outpatient setting and is not invasive (you do not have to stick her with a needle!). Nephrotic syndrome is defined as proteinuria > 50mg/kg. However, this cannot be detected with a UA. A UA dipstick will show high albumin concentration (graded as 3+ or 4+), and is used as a screening tool. Additional testing will be needed to confirm the diagnosis. |
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A 3-year-old male presents to clinic with an annular, well-circumscribed, scaly plaque with a raised erythematous border and central hypopigmentation on the left thigh. The mother reports that the lesion is highly pruritic and that the patient has been exposed to other children with a similar rash at day care. Upon further examination, a similar lesion with boggy borders is also found on the posterior aspect of his scalp. Which of the following is the most appropriate treatment for this child’s problem?
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Oral griseofulvin Topical antifungals are not usually successful in treating tinea capitis, because the infected hair follicles are deep within the scalp. Systemic griseofulvin is the first choice for the treatment of tinea capitis. |
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A 3-year-old child is found to have a dry, pruritic rash on his face. Physical exam is notable for confluent areas of erythema and scaling. There are mild excoriations surrounding some areas and mild lichenification of the extensor surfaces of both elbows. What is the next best step in management of this child’s problem?
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Topical steroids and emollient Atopic dermatitis most often presents with dry, itchy skin in addition to erythema, scaling, vesicles, or lichenification in skin flexures. Treatment consists of emollients and topical corticosteroids. |
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A 10-year-old boy presents to his pediatrician with a history of hypopigmented non-pruritic "dots," mostly located on his face and neck. His mother complains that lesions get worse during the summer when her son plays outside. On exam, they are slightly scaly, hypopigmented lesions approximately 0.5 cm in diameter. What is the most likely etiology of his rash?
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Decreased number of active melanocytes and decreased number and size of melanosomes Pityriasis alba, common in children 3 to 16 years of age, presents as hypopigmented macules. They most often occur on the face, neck, trunk, and extremities. They have irregular borders, can vary in size, and may have a slight scale. Lesions may become more noticeable after sun exposure because of tanning of the surrounding skin. The etiology of this disorder is unknown, but ultrastructural examination of epidermal cells reveal decreased number of active melanocytes as well as decreased number and size of melanosomes. |
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papules normally located in the beard or hair distribution. It appears similar to acne, but it is more closely located to hair follicles. Development of this disorder is related to trauma due to shaving or plucking.
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pseudofolliculitis barbarae
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