Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
265 Cards in this Set
- Front
- Back
- 3rd side (hint)
|
What is the most common cause of amblyopia (a decrease in the visual acuity of one or both eyes)?
|
Strabismus - the normal eye assumes the function of being the "preferred eye" leading to amblyopia and eventual loss of vision in the deviaetd eye.
Other causes include: (1) errors of refraction (2) opacity of media along the visual axis. The standard treatment is occlusion of the NORMAL eye. This procedure forces the affected eye to correct itself in order to be properly functional, thus stimulating proper visual maturation. In case the amblyopia is 2dry to abnormalities in refraction, appropriate lenses should be prescribed so as to have a well-formed retinal image. If the amblyopia is caused by an opaque media, surgical removal of the media should be performed. |
|
|
|
When does amblyopia occur?
|
Only during the first decade of life, a period during which the visual cortex is still maturing. During this stage, any anomaly (e.g., strabismus, abnormalities of refraction, or a media opacity within the visual axis) compromising the formation of a normal image on the retina may result in vision loss; therefore the prompt diagnosis and management of such conditions are essential.
|
|
|
|
What test is useful in diagnosing congenital glaucoma?
|
Measurement of intraocular pressure. Children with this problem usually have leukocoria, sensitivity to light, and excessive lacrimation.
|
|
|
|
What is the cover test?
|
An important tool for detection of strabismus. Ask the child to fix his sight on a target as the examiner alternately covers one eye while observing the movement of the other. A normal eye keeps the same position and does not move, whereas a misaligned eye shifts to refixate the object when the normal eye is covered.
|
|
|
|
What are the most common PE findings in newborns with Turner syndrome?
|
Webbed neck, high palate, short 4th metacarpal, and nail dysplasia.
Turner syndrome patients have a higher risk of renal abnormalities, particularly horseshoe kidney and should have a screening ultrasound after the diagnosis is made. Non-pitting edema of the hands and feet are also common in Turner syndrome patients due to the abnormal development of the lymphatic network (dysgenesis of the lymphatic network). |
Turner's syndrome may cause other congenital heart defects such as COA and diseases with a left-to-right shunt (such as VSD).
|
|
|
What should be suspected in a neonate that presents with vomiting, bloody diarrhea, eosinophils in the stool, and a positive family history of atopy?
|
Milk protein intolerance - it is a hypersensitivity reaction to cow's milk proteins and therefore usually occurs in babies who are fed with cow's milk. However it may occur in breastfed babies, as the mother's milk may contain proteins from ingested cow's milk.
|
|
|
|
What is characterized by hypertension in the upper part of the body, relative hypoperfusion in the lower part of the body, and a mild, continuous murmur heard all over the chest?
|
Coarctation of the aorta (COA) - a congenital defect characterized by stenosis of the aorta, usually near the ductus arteriosus. Clues to this diagnosis are occasional headaches, increased BP in both arms, leg muscle fatigability while climbing the stairs (due to lower body hypoperfusion), and a mild, continuous murmur heard all over the chest (due to the development of collaterals btn the hypertensive and hypoperfused vessels). Rib notching caused by dilatation of the collateral chest wall vessels is specific for coarctation.
|
The prevalance of COA in Turner's syndrome is approximately 7%.
|
|
|
What is the most common cause of neonatal conjunctivitis?
|
Chlamydia trachomatis - usually presents on the 5th to 14th day of life as congestion and discharge that may be scant, mucoid, or frankly purulent. It may appear in patients who received prophylactic drops. Treatment is SYSTEMIC erythromycin to decrease the risk of chylamydial pneumonia.
|
Oral tetracyclines are effective against chlamydia but are contraindicated in children less than 8 years of age.
|
|
|
The most common cause of red eye that presents within the first 24 hours of life?
|
Chemical conjunctivitis - approximately 80% of pts who receive prophylactic silver nitrate (to prevent gonococcal conjunctivitis) experience mild conjunctival irritation and tearing that generally resolves within 24 hours.
|
|
|
|
What type of conjunctivitis should be suspected during the 2nd to 5th day of life?
|
Gonococcal conjunctivitis - presents as a hyperacute and highly purulent conjunctivitis. It is the most destructive neonatal eye infection since it may result in corneal perforation and permanent blindness if left untreated. Treatment is ceftriaxone.
|
|
|
|
What treatment can be used in allergic conjunctivitis or conjunctivitis caused by Adenovirus?
|
topical steroids
|
|
|
|
What is the most likely diagnosis in a stillborn infant with multiple fractures, blue sclera, and short, bent extremities?
|
Osteogenesis imperfecta type 2 - an autosomal dominant inherited disease caused by defects in the gene coding for type I collagen which is widely distributed in the body (bones, tendons, fibrocartilage, skin, eyes, and other structures).
Pts with severe type 2 form usually expire in utero due to multiple intrauterine and perinatal fractures as well as restrictive lung disease. |
|
|
|
What is the likely diagnosis in a child at 12-15 months of age that presents with Kwashiorkor-like clinical features, dermatitis herpetiformis, and chronic non-bloody diarrhea?
|
Celiac disease - a gluten-sensitive enteropathy that characteristically presents at 12-15 months of age, when gluten-containing foods such as wheat, rye or barley are introduced into the child's diet.
Kwashiorkor-like features: protruding belly and pre-tibial edema dermatitis herpetiformis - erythematous vesicles symmetrically distrubed over the extensor surfaces of elbows and knees |
|
|
|
A diagnosis easily confused with certain pervasive and behavioral disorders in children with poor language development and social skills.
|
Hearing impairment - can be hereditary or acquired. The most common is conductive hearing impairment due to repeated ear infections. Often these children suffer from poor self esteem and isolate themselvs as a result.
|
|
|
|
Lymphadenopathy, HYPERGAMMAglobulinemia, hepatomegaly, splenomegaly, anemia of chronic disease, underweight, chronic diarrhea, short stature, gingivitis, and dermatitis are common clinical findings in what disorder?
|
Chronic granulomatous disease (CGD) - a defect of phagocytic cells due to dysfunction of NADPH oxidase enzyme complex, leading to recurrent and uncontrolled infections with catalase-positive organisms such as S. aureus, Serratia marcescens, Burkholderia cepacia, Klebsiella, and Aspergillus sp. Pts are NOT susceptible to catalase-negative organisms (Streptococcus pyogenes, Streptococcus pneumoniae, and Haemophilus influenzae) bc bleach can still be formed.
CGD should be suspected in ALL patients presenting with unexplained infections caused by Aspergillus, Serratia marcescens, and Burkholderia cepacia. The diagnosis is made by nitroblue tetrazolium (NBT) slide test, flow cytometry, or cytochrome C reduction. Treatment includes prevention of infection with DAILY TMP-SMX and gamma-interferon 3 times per week. Bone marrow is experimental but curative. |
|
|
|
What is Wiskott-Aldrich syndrome (WAS)?
|
WAS is an X-linked recessive disease caused by a defective gene encoding for Wiskott-Aldrich syndrome protein (WASP) with inability to mount IgM response to polysaccharide capsules. The classic presentation involves a young boy with excema, thrombocytopenia, and recurrent infections with encapsulated germs. The initial manifestations often present at birth and consist of petechiae, bruises, bleeding from circumcision, or bloody stools. Immunologic findings include low IgM levels, high IgA and IgE levels, poor antibody responses to polysaccharide antigens, and moderately reduced number of T cells and platelets.
Note: WIPEX - infections, thrombocytopenic purpura, excema, x-linked |
|
|
|
What is Chediak-Higashi syndrome?
|
It is characterized by decreased degranulation, chemotaxis and granulopoiesis. It is a multisystem disorder with mild coagulopathy, peripheral and cranial NEUROPATHY, hepatosplenomegaly, pancytopenia, partial oculocutaneous ALBINISM, frequent bacterial infections (usually S. aureus), and progressive lymphoproliferative syndrome.
The findings of neutropenia and GIANT lysosomes in neutrophils confirm the diagnosis. Treatment includes prevention of infection with daily TMP-SMX and daily ascorbic acid. |
|
|
|
What causes leukocyte adhesion defect (LAD)?
|
It results from failure of innate host defenses against bacteria, fungi, and other microorganisms due to defective tethering, adhesion, and targeting of myeloid leukocytes to sites of microbial invasion. The hallmark of the disease is neutrophilia withOUT polymorphs in the INFECTED tissue or pus. Pts typically have a hystory of delayed separation of the umbilical cord, recurrent bacterial infections, necrotic skin lesions, severe gingivitis, periodontitis, and alveolar bone loss leading to early loss of deciduous and permanent teeth.
|
|
|
|
What is hyper-IgE (Job's) syndrome?
|
Characterized by chronic pruritic dermatitis, recurrent staphylococcal infections (skin and respiratory tract), markedly elevated serum IgE levels, eosinophilia and coarse facial features. Recurrent staphylococcal infections involving the skin, lungs, and joints with other features such as distinctive facial appearance, dental abnormalities,a nd bone fractures are essential for diagnosis.
FATED - coarse Facies, cold non-inflamed Abscesses, retained primary Teeth, high IgE, Derm problems (excema, pruritus) |
|
|
|
How is anemia of prematurity defined?
|
1) peripheral smear shows normocytic and normochromic anemia. No other abnormal forms are seen.
2) The reticulocyte count is low, and red blood cell precursors in the bone marrow are decreased. 3) Normal WBC and platelet counts. 4) Normal total bilirubin level. Symptoms include poor weight gain, poor feeding, lethargy, tachypnea, tachycardia, and pallor. The Hb level is usually around 7-10 g/dL. |
|
|
|
What is the pathology of anemia of prematurity seen in hospitalized, premature, or low birth weight infants?
|
involves a combination of diminished RBC production, shortened RBC life span, and diminished fetoplacental transfusion (occurs when the baby is held above the level of the placenta after delivery).
Symptoms include poor weight gain, poor feeding, lethargy, tachypnea, tachycardia, and pallor. The Hb level is usually around 7-10 g/dL. |
|
|
|
Treatment for anemia of prematurity?
|
iron supplementation, periodic Hb checking and blood transfusion if needed. Erythropoietin is not routinely used.
Note: Iron supplementation does not prevent falling Hb levels and iron deficiency is not he cause of anemia of prematurity. Iron is given because it will be stored and reutilized during the active phase of erythropoiesis. |
|
|
|
The most common cause of congenital hypothyroidism in the US?
|
thyroid dysgenesis (i.e. aplasia, hypoplasia, or an ectopic gland) - accounts for 85% of cases in the USA
|
Iodine deficiency or endemic goiter is the most common cause of congenital hypothyroidism WORLDWIDE but is essentially not seen in the US.
|
|
|
Pertinent physical findings in a patient with posterior vermis syndrome?
|
unbalanced gait, truncal dystaxia, horizontal nystagmus, and papilledema.
Medulloblastoma is the second most common infratentorial tumor and posterior fossa tumor (after cerebellar astrocytoma) in children. It is highly radiosensitive and can metastasize through the CSF tract. Over 90% of medulloblastomas develop in the VERMIS. |
|
|
|
What are "tet" spells?
|
In untreated pts with tetralogy of fallot, htese spells are often precipitated by exertion (such as feeding) and are characterized by irritability, cyanosis, and tachypnea. Although the exact etiology of these episodes are unclear, it is caused by an increased right to left shunt across the VSD resulting in a decrease in pulmonary blood flow and an increase in systemic venous return of deoxygenated blood leading to worsening cyanosis.
Treatment is to place the child in a knee to chest position, which increases systemic vascular resistance resulting in increased blood flow fromt he right ventricle to the pulmonary circulation. Morphine and IV fluid bolus can also be given to increase pulmonary blood flow. Oxygen is of little benefit bc the abnormality is decreased pulmonary blood flow, not insufficient oxygenation. |
|
|
|
What is the distinguishing feature of osteogenesis imperfecta types I, III, and IV?
|
The presence or absence of dentinogenesis imperfecta. It is a disorder of tooth development. The teeth are usually discolored (bluish gray or yellow-brown), translucent, and weak. Both primary and permanent teeth are affected.
|
Type II is the most severe form and is usually lethal within the first year of life.
|
|
|
How should breath holding spells be treated?
|
Education and reassurance tht the episodes are not harmful and will not have any long term effects.
|
|
|
|
What are breath holding spells?
|
Episodes of apnea that are sometimes associated with a loss of consciousness, and precipitated by frustration, anger, or pain. These episodes usually occur in children ages 6-18 months. Classically the child gets frustrated and holds their breath which may lead to loss of consciousness followed by spontaneous resolution. Unlike seizures, there is no incontinence or postictal phase associated with the breath holding spells. These spells can be simple (no change in circulation or oxygenation), cyanotic (associated with hypoxia and decreased blood flow to the brain but with no long-term adverse effects), pallid (pallor brought on by painful events or minor trauma), or complicated (more severe form of the syanotic or pallid types associated with seizure-like activity but with a normal electroencephalogram).
|
|
|
|
What is the most common form of congenital adrenal hyperplasia?
|
21-hydroxylase deficiency - presents with decreased production of mineralocorticoids and glucocorticoids and consequent hyponatremia and hyperkalemia as well as excess 17-alpha-hydroxyprogesterone which is shunted to androgen synthesis resulting in hirsutism and virilism.
|
|
|
|
What should you suspect if you see a young boy with gout?
|
Lesch-Nyhan syndrome is an X-linked recessive disorder secondary to a deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT). This deficiency results in increased levels of uric acid. The condition gernerally presents around the age of 6 months with hypotonia and persistent vomiting. The clinical picture worsens thereafter with the progressive mental retardation, choreoathetosis, spasticity, dysarthric speech, dystonia and compulsive self-injury, especially biting of the upper extremities. The uric acid excess deposits in different tissues, resulting in gouty arthritis, tophus formation and obstructive nephropathy. Allopurinol is used to reduce the uric acid levels. Pts should be advised to take adequate intake of fluids.
Note: Gout is usually seen in pts above 50 years of age. |
|
|
|
What is the most common cause of short stature and pubertal delay in adolescents?
|
Constitutional growth delay - affected individuals have a normal birth weight and height but btn 6 months and 3 years of age, the height growth velocity slows, and the child drops percentiles on their growht curve. Around 3 years, the child regains a normal growth velocity and follows the growth curve at the 5th to 10th percentile. Puberty and the adolescent growth spurt are delayed but eventually occur. The child will have a normal growth spurt and reach a normal adult height. Bone age radiographs show a bone age that is delayed compared to the chronological age.
|
|
|
|
What is a neurocutaneous syndrome characterized by a congenital unilateral cavernous hemangioma along the trigeminal nerve distribution and radiographic evidence of intra-cranial calcifications that resemble a tramline?
|
Sturg-Weber syndrome - presentation includes focal or generalized seizures, MR, and a port wine stain or nevus flammeus (NON-blanching) along the territory of the trigeminal nerve (representing a congenital unilateral cavernous hemangioma). Seizures are the usual neurological presentation and may start at any age. Other pertinent findings are hemianopia, hemiparesis, hemisensory disturbance, and ipsilateral glaucoma. Skull x-rays taken after the age of 2 years reveal gyriform intracranial calcifications. Argon laser therapy is successful in removing the skin lesions.
|
|
|
|
What should be suspected in a pt that presents with equinus and varus of the calcaneum and talus, varus of the midfoot, and adduction of the forefoot?
|
Clubfoot which is initially managed (immediately - same day) with stretching and manipulation of the foot, followed by serial plaster casts, malleable splints, or taping. Surgical treatment is indicated if conservative management gives unsatisfactory results, and is preferrable btn 3-6 months of age.
May be congenital, teratologic, or positional. |
|
|
|
What should be suspected in a child less than 6 years of age who presents with pharyngitis, moderate fever, dysphagia, neck stiffness, a muffled voice, and a posterior pharyngeal bulge?
|
Retropharyngeal abscess - a deep neck space infection most commonly seen btn 6 months to 6 years of age. Decreased incidence in children older than 6 years is noted bc of retropharyngeal lymph node regression and a decreased incidence of viral upper respiratory infections.
Classically the abscess forms by direct spread of infection of the pharynx. Infections are often polymicrobial and commonly include S. pyogenes, S. aureus, and anaerobes. On examination, UNIlateral cervical lymphadenopathy and decreased range of motion of the neck are common findings. An erythematous oropharynx and a unilateral pharyngeal bulge may be present if the child is able to pen the mouth. Diagnosis is with either a plain radiograph or CT scan of the neck. Lateral neck radiographs often show WIDENING of the soft tissue space btn the trachea and the spine. However, for accuracy, the radiographs must be taken during inspiration with the neck extended. Adequately positioning young children is difficult resulting in a high false positive and false negative rate. Diagnosis should be confirmed by CT which will dileate the abscess and help distinguish btn an abscess and cellulitis. |
|
|
|
Caused by entrapment of melanin-containing melanocytes in the dermis?
|
Mongolian spot - well-demarcated, flat, blue/gray, lesion over the sacral/presacral area that disappears in the first few years of life, more common in dark skinned children, lesions do NOT fade into surrounding skin (unlike bruises).
|
|
|
|
What should be suspected in an infant patient with colicky abdominal pain, non-bilous vomiting, and red currant jelly stools? Btn episodes of abdominal pain, the child appears well. On PE, the abdomen is usually soft, nontender, and nondistended. A sausage-shaped mass is often palpated.
|
Intussusception - occurs more often in males and is highest in incidence in children 3-36 months with peak incidence at 8 months. Most commonly, intussesceptions are found at the ileocolic junction. The mesentery of the telescoping bowel segment becomes compressed, impairing venous return and causing bowel wall edema, ischemia, and necrosis. In neonates and older children, lead points can include Meckel's diverticulum, foreign body, polyp, lymphoma, or hemangioma.
An abdominal radiograph may show air fluid levels due to obstruction. A sono may show a targetoid lesion in which one bowel segment is nested inside another bowel segment. An air contrast enema is both diagnostic AND therapeutic in the majority of cases. Emergent laparotomy is indicated when air contrast enema is unsuccessful and becomes the treatment of choice if the child presents with peritoneal signs. |
|
|
|
What is the best diagnostic test when intussusception is suspected?
|
Air contrast enema - both diagnostic and therapeutic!
|
|
|
|
Until what age is bedwetting a normal phenomenon?
|
Age 5
|
|
|
|
FAS and Down Syndrome can sometimes be clinically difficult to differentiate...what testing can help?
|
Karyotyping - normal karyotype rules out Down's syndrome
|
|
|
|
What should be suspected in a child with regression of milestones associated with physical findings such as a cherry red spot on retinal exam, protruding abdomen, hypotonia, hepatosplenomegaly, and cevical lymphadenopathy?
|
Niemann-Pick's disease - deficiency of sphingomyelinase. Thus sphingomyelin accumulates in the recuticuloendothelial cells of the liver, spleen, BM, and brain.
|
|
|
|
What should be suspected in a child with sudden-onset abdominal pain, bloody diarrhea, and a triad of anemia, thrombocytopenia, and renal insufficiency?
|
HUS caused by E. coli - a verotoxin invades/destroys the colonic epithelial lining producing bloody diarrhea. Subsequent activation of the coagulation system and red cell hemolysis results in jaundice.
Treatment is generally supportive, and involves plasmapheresis, dialysis if necessary, and steroids. Antibiotics are NOT indicated. |
|
|
|
What is the most common congenital heart defect?
|
VSD - presents with a harsh and holosystolic murmur heard at the left, lower sternal border. Small VSDs close spontaneously and require no treatment, as long as there are no signs of pulmonary vascular disease. Reassurance, surveillance (via EKG and echocardiography), and infective endocarditis prophylaxis (prior to dental visits and other oropharyngeal surgical procedures) are all that are needed for management.
|
|
|
|
What is the most common nutritonal deficiency in children?
|
Iron deficiency - at birth , the iron stores of the infant are dependent upon the mother's iron stores, any prenatal or perinatal hemorrhage, and prematurity is a risk factor for iron deficiency. Term infants usually have adequate iron stores to sustain them for 6 months.
Early introduction to or excessive intake of cow's milk is not suggested bc cow's milk is lown in iron and can cause occult intestinal blood loss in infants. Children should not be started on cow's milk until one year of age, and children btn 1-5 years old should not consume more than 20 ounces of milk a day. Children with iron deficiency are often asymptomatic other than pica, fatigue, and pallor. A classic presentation does not warrent testing beyond a CBC. The most effective treatment approach is oral iron therapy. |
|
|
|
Difference btn gynecomastia and pseudogynecomastia?
|
Gynecomastia is a benign proliferation of the glandular tissue of the male breast. Pseudogynecomastia is the presence of adipose tissue rather than glandular tissue.
|
|
|
|
What is the management of pubertal gynecomastia in a male with normal testicular size (2 cm long and 3 mL in volume)?
|
Reassurance and watchful waiting/observation. Pubertal gynecomastia is seen in approx 1/2 of adolescent boys at an avg age of 14 years. It is often asymmetric or transiently unilateral, frequently tender, and regresses wi 6-18 months. It is mediated by estrogen and results from a decrease in the ratio of active adrogen to estrogen. In males, estrogen is synthesized by the peripheral conversion of androgen to estrogen, thus the onset of gynecomastia in adolescents correlates with the increase in adrenal androgens at adrenarche.
|
|
|
|
What is the DIAGNOSTIC study of choice in a patient that presents with acute alkali ingestion?
|
Upper gastrointestinal endoscopy. Attempting to neutralize the alkali with vinegar or lavage is dangerous since these may increase the extent of injury.
Initial management is directed towards maintaining airway patency. The next step is upper GI endsoscopy (recommended in the first 24 hours). |
|
|
|
The treatment for an acute severe exacerbation of lung disease in a cystic fibrosis patient?
|
IV antibiotic therapy with coverage against Pseudomonas aeruginosa - usually a combination of two drugs such as a cephalosporin or a penicillin derivative such as ticarcillin PLUS an aminoglycoside such as amikacin or gentamicin.
|
|
|
|
When in asthma is theophylline an option?
|
When wheezing is severe; however the agent must be given IV and levels must be monitored since the drug has a tendency to increase the heart rate. For acute status asthmaticus, theophylline does not help much.
|
|
|
|
What is the most common cause of acute diarrhea in children?
|
Rotavirus - especially those btn 6 months and 2 years of age. It is characterized by severe watery diarrhea with vomiting, fever, and/or respiratory symptoms. Most cases are self-limiting; however, it is important to maintain adequate hydration during the course of the illness. Two vaccines are available: a pentavalent vaccine and a monovalent vaccine.
|
|
|
|
Common cardiac anomaly in Turner syndrome patients?
|
coarctation of the aorta and a bicuspid aoritc valve
|
|
|
|
What is the second most common conginatal cardiac lesion in ADULTS?
|
ASD (most common is the bicuspid aortic valve). Ostium secundum type is the most common type. It has a wide, fixed splitting of th esecond heart sound. An echocardiogram is diagnostic.
|
|
|
|
What should be suspected in infants presenting with persisten oral thrush, lymphadenopathy, and hepatosplenomegaly?
|
HIV/AIDS. Serologic testing is NOT useful bc of the passage of maternal antibodies to the fetal circulation through the placenta. PCR, viral culture and p24 antigen testing are more appropriate; HIV infection is confirmed if at least two of these tests are positive.
The disease progresses more reapidly in infants. Infected infants are generally asymptomatic at birth with the first symptoms appearing in the first month. More severe symptoms subsequently develop including intractable diarrhea, refractory infections and failure to thrive. Half of HIV positive children develop AIDS in the first year of life, with an average survival rate of 3 years. |
|
|
|
Friedreich ataxia is caused by an excessive number of ____?
|
trinucleotide repeat sequences resulting in an abnormality of a tocopherol transfer protein. The disorder is progressive with poor prognosis. Most pts are wheelchair bound by the age of 25, with death occurring by 30-35 years.
FA is associated with necrosis and degeneration of cardiac muscle fibers leading to myocarditis, myocardial fibrosis, and cardiomyopathy. cardiac arrhythmia and CHF contribute to a significant number of deaths. T-wave inversions are common due to myocarditis. Genetic counseling is recommended for prenatal diagnosis for parents with an affected child. |
|
|
|
Differential for a T-wave inversion?
|
myocardial infarction, myocarditis, old pericarditis, myocardial contusion and digoxin toxicity.
|
|
|
|
What should be suspected in a newborn with vomiting, abdominal distention, bloody diarrhea, and leukocytosis, especially if the symptoms occurred after introduction of formula to the diet?
|
Necrotizing enterocolitis. Radiologic finding of pneumatosis intestinalis (i.e. intramural air) is diagnostic.
Affects 1-5% of all newborns admitted to the NICU. The underlying pathology is perinatal asphyxia that may lead to bowel ischemia, and the subsequent introduction of formula feeding may provide a substrate for bacterial growth. Aggressive resuscitation is carried out with antibiotics, but the condition still carries a high mortality. |
|
|
|
Does premature adrenarche, thelarche, or pubarche have any clinical significance?
|
Premature adrenarche (isolated appearance of axillary hair before the age of 6 years) and thelarche (premature breast development) often have NO clinical significance. On the other hand, pubarche (pubic hair growth before the age of 8 years) requires a thorough evaluation, as it may be due to a CNS disorder in 50% of cases.
|
|
|
|
Most common cause of nephrotic syndrome in patients younger than 16 years?
|
Minimal change disease - Light microscopy and immunofluorescence reveals normal renal architecture. Electron microscopy shows diffuse effacement of foot processes of podocytes. Steroids are the treatment of choice with 90% of children in complete remission by 4-6 weeks of therapy.
|
|
|
|
Recommended treatment for stage 1 Lyme disease in children less than 9 years of age?
|
Amoxicillin for 21 days. Pts classically present with erythema migrans in stage 1 Lyme disease.
|
|
|
|
What is the appropriate next step in management of a child with recurrent episodes of nocturnal vulvar itching?
|
Scotch tape test.
Treated empirically with mebendazole. |
|
|
|
TORCH infections (toxoplasmosis, syphillis, rubella, CMV, and HSV) are collectively characterized by what symptoms?
|
hepatosplenomegaly, deafness, microcephaly, growth retardation, chorioretinitis, and thrombocytopenia.
Fetal infection in the first trimester can have serious consequences. |
|
|
|
The most common birth injury?
|
Clavicular fracture - common in mothers with GDM, prolonged labor due to shoulder dystocia, and large babies. Most clavicular fractures are greenstick and heal rapidly wo complications.
|
|
|
|
Treatment for TCA intoxication?
|
Sodium bicarbonate. Severe TCA intoxication features seizure, hypotension, and prolonged QRS complexes on EKG. Sodium bicarbonate helps correct the acidosis and helps narrow the QRS complex prolongation. Benzodiazepines are given when the patient presents with seizures that require treatment.
|
|
|
|
What is postpericardiotomy syndrome?
|
a reactive pericarditis with pericardial effusion which presents after surgery for congenital heart disease. Symptoms usually occur 1-6 weeks after surgery. Thought to be an autoimmune response, possibly to a viral infection. Most children develop mild symptoms which are self limited. In infants, pericardial effusion can present with abdominal pain, vomitng, and decreased appetite. Older children may complain of chest pain. Fever is often present.
|
|
|
|
Croup is caused by?
|
Parainfluenza virus - commonly presents in children younger than 3 years with hoarseness, a barking cough, and varying degrees of respiratory distress. Also known as laryngotracheitis or laryngotracheobronchitis (LTB). Lateral neck x-rays show subglottic narrowing.
|
|
|
|
Most likely diagonsis in a young child with symptoms of increased intracranial pressure (headaches, vomiting), bitemporal hemianopsia, and a calcified lesion above the sella?
|
Craniopharyngioma until proven otherwise - these are epithelial remnants of Rathke's pouch - not true pituitary tumors. It is characterized by nests of squamous cells in a loose stroma, resembling the appearance of embryonic tooth bud enamel.
Associated endocrine symptoms such as diabetes insipidus or growth failure associated with either hypothyroidism or growth hormone deficiency may occur. Diagnosis is usually made by CT or MRI. Surgical removal is treatment of choice. |
|
|
|
The wide range of manifestations of cystic fibrosis?
|
anemia, heat intolerance, steatorrhea (due to pancreatic insufficiency), wheezing, recurrent infections, hemoptysis, clubbing, and rectal prolapse.
Treatment is high calorie diet, pancreatic enzyme replacements and fat soluble vitamins. Current median survival is 30 years. Complications of prolonged CF include gallstones, cirrhosis with portal hypertension and pancreatic fibrosis. |
|
|
|
The most common type of spinocerebellar ataxia?
|
Friedreich ataxia - an autosomal recessive disorder with symptoms usually beginning before 22 years. There is a combination of neurologic (ataxia, dysarthria, frequent falls), skeletal (scoliosis, hammer toes), and cardiac (concentric hypertrophic cardiomyopathy) manifestations of the disease. Most common cause of death is due to cardiomyopathy or respiratory complications. Cardiomyopathy develops in up to 90% of these pts.
|
|
|
|
Characteristic CXR in hyaline membrane disease vs. transinet tachypnea of the newborn ?
|
fine reticular granularity of the lung parenchyma
vs. prominent pulmonary vascular markings, fluid lines in the fissures, overaeration, a flat diaphragm, and occasionally pleural fluid. |
|
|
|
Most common causes of viral meningitis?
|
non-polio enteroviruses such as echoviruses and coxsackieviruses
|
|
|
|
The most common manifestation of Wiskott-Aldrich syndrome?
|
thrombocytopenia caused by decreased platelet PRODUCTION. Thrombocytopenia is present in over 90% of pts with WAS. The few platelets that do exist are typically quite small.
|
|
|
|
What causes fragile X syndrome?
|
An increased number of CGG trinucleotide repeats causing aberrant methylation of the FMR1 gene.
Affected males may have characteristic appearance of large head, long face, prominent forehead and chin, protruding ears, joint laxity and large testes. Behavioral abnormalities commonly include hyperactivity, short attention span, and autism. |
|
|
|
Most common cardiac abnormality seen in Edward's syndrome?
|
VSD
|
|
|
|
Most common cause of polycythemia in term infants?
|
Delayed clamping of the umbilical cord resulting in excess transfer of placental blood.
|
|
|
|
Most common manifestations of polycythemia in newborns?
|
respiratory distress(2ndry to a decrease in pulmonary blood flow due to the hyperviscocity of the blood), poor feeding, and neurologic manifestations (lethargy, irritability, jitteriness, and seizures).
Treatment includes hydration and if symptomatic, partial exchange transfusion. |
|
|
|
What should be suspected in a patient with recurrent sinopulmonary and GI infections and anaphylactic transfusion reaction?
|
IgA deficiency - most often asymptomatic but may present with mild disease involving recurrent sinopulmonary (streptococcus and hemophilus) and GI infections (Giardia). Pts with IgA deficiency may also form antibodies to IgA, predisposing them to anaphylactic transfusion reactions.
|
|
|
|
Criteria for Kawasaki's disease?
|
1) Fever for > 5 days, and
2) Four of the following symptoms: -bulbar conjunctival injection -desquamation of the finger and toe tips, indurative edema -erythema, fissuring, and crusting of the lips, strawberry tongue, and diffuse mucosal injection of the oropharynx -morbilliform trancal exanthem -cervical lymphadenopathy Kawasaki dz or mucocutaneous lymph node syndrome is one of hte most common causes of generalized vasculitis in children. Usually self-limited but can be fatal so all pts with suspected disease should be hospitalized and treated with IV immune globulin (IVIG) and high-dose aspirin. If untreated, up to 25% may develop coronary artery aneurysms. A baseline echocardiogram should be performed within 7 days of dz onset, then repeated 6-8 weeks later. |
|
|
|
What events commonly lead to TOF "tet" spells?
|
crying, infection, and exercise.
Severe spells may precipitate seizures and loss of consciousness. Immediate teatment is administration of oxygen and placing the child in a knee-chest position, followed by administration of fluids, morphine, and propranolol. |
|
|
|
Most common form of glomerulonephritis in children?
|
Acute post-streptococcal glomerulonephritis - may occur following pharyngitis or pyoderma. Pts are often hypertensive and edematous. The serum C3 and CH50 (complement proteins) levels are low, while the C4 level is normal which indicates the activation of the alternate complement pathway. Other lab findings include hematuria, proteinuria and increased ASO titers.
Renal function returns to normal within 1-2 wks. Hypocomplementemia usually resolves in 8-12 wks. Other disorders (SLE, membranoproliferative glomerulonephritis) should be considered if complement levels do not normalize in at least 4 months. Hematuria may persist for up to 6 months. Proteinuria resolves much slower than hematuria - 15% of pts may have proteinuria for a period of 3 years. Antibody titers return to normal within 3-4 months. |
|
|
|
Pain in the hip that gradually progresses in a patient with sickle cell dz?
|
Aseptic necrosis of the femoral head - involves occlusion of end arteries supplying the femoral head, bone necrosis, and eventual collapse of the periarticular bone and cartilage.
The femoral head has 2 main sources of blood supply - ascending arteries and the foveal artery which lie in the ligamentum teres. The foveal artery is patent early in life but may become obliterated in older pts which explains why aseptic necrosis of the femoral head in children is rare. |
|
|
|
The most likely diagnosis in a pt with tall stature, long and emaciated extremities, arachnodactyly, hypermobility of the joints, UPWARD lens dislocation, and aortic root dilation?
|
Marfan's syndrome - an autosomal dominant disorder resulting from mutations of the fibrillin-1 gene (FBN1). Suprisingly up to 30% may be sporadic.
|
Marfan's pts have hyperelastic skin with DIMINISHED recoil while Ehlers-Danlos pts have hyperelastic skin withot diminished recoil
|
|
|
Difference in lens dislocation in Marfan's syndrome vs. homocystinuria?
|
Marfan's - lens dislocates upward
homocystinuria - lens dislocates downward pts with homocystinuria share many features of Marfan's syndrome, but they usually have a fair complexion, thromboembolic events, and osteoporosis. |
|
|
|
The differential diagnosis of a solitary, painful, lytic long bone lesion with overlying swelling and HYPERCALCEMIA in a CHILD should include?
|
Langerhans cell histiocytosis (also known as LCH, Langerhans cell granulomatosis, histiocytosis X).
A hyperparathyroid state such as a parathyroid adenoma typically occurs in pts > 50 years. |
|
|
|
What should be suspected in a child presenting with signs and symptoms of stroke?
|
Strokes in children are uncommon. When they do occur they are often the rsult of a congenital abnormality, infection or systemic illness. Many childhood strokes are caused by sickle cell anemia.
|
|
|
|
What investigation should be performed first in all pts with any form of renal manifestations?
|
urinalysis
In addition, estimation of the GFR and measurement of the serum levels of BUN and creatinine are used to assess the degree of renal impairment. |
|
|
|
What vitamin should be supplemented in a pt suspected to have measles?
|
Vitamin A - reduces the time to recovery from pneumonia and diarrhea as well as length of hospital stay and risk of death. It is postulated that Vitamin A resolves a virally-induced hyporetinemia.
|
Malnourishment and fat malabsorption are the most significant causes of Vitamin A deficiency.
|
|
|
Most common cause of anemia in sickle cell patients?
|
chronic hemolysis - hemolysis is mainly extravascular and leads to reticulocytosis, hyperbilirubinemia and elevated serum LDH with low serum haptoglobin.
|
|
|
|
Suspect what disorder in a child with proximal muscle weakness, positive Gower's sign, depressed reflexes, and pseudohypertrophy of the calf muscles?
|
Duchenne muscular distrophy - Dystrophin is usually absent. EMG shows myopathic pattern. Serum CK levels are very high (4,000-5,000 IU). The diagnosis is confirmed by muscle biopsy.
|
|
|
|
Suspect what problem in a 2 to 3 year old child with painless melena?
|
Meckel's diverticulum - in 2-3% of the population and results from the failure of the vitelline duct to obliterate during the fetal development. Heterotropic gastric tissue may be present in the diverticulum which results in ulcerations and bleeding. Diagnosis is best made with technetium-99m pertechnetate scanning (uptake by heterotropic gastric mucosa).
|
|
|
|
What is metatarsus adductus and what is the treatment?
|
A congenital foot deformity that is most frequent in first-born infants, attributable to the molding effect of the primigravid uterus. Approximately 10% of pts also have an associated acetabular dysplasia; hence careful hip examination is required.
It can be subdivided into 3 types: Type I has feet that overcorrect both passively and actively into abduction. These cases tend to spontaneously correct by themselves therfore treatment is not necessary. Type II has feet that correct to the neutrl position with passive and active movements and is managed with orthosis or corrective shoes and sometimes plantar casts. Type III has rigid feet and do not correct; therefore managed with serial casts. |
|
|
|
Which organism is likely in an infant with signs of meningitis and a petechial rash?
|
meningococcemia - 75% of pts with Meningococcus meningits present with petechial rash prominent on the axilla, wrists, flanks, and ankles. The patients generally appear sick.
|
|
|
|
The most common cause of meningitis in infants?
|
Group B strep - usually acquired from mother during childbirth. Not associated with a rash.
|
|
|
|
Most appropriate management of a patient with pyloric stenosis?
|
Pre-surgical stabilization of infant's hydration status and electrolye levels followed by surgical correction. Feeding by nasogastric tube may be required.
|
|
|
|
What is PKU and how is it diagnosed?
|
Deficiency of phenylalanine hydroxylase (enzyme that breaks phenylalanine into tyrosine) leading to accumulation of phenylalanine and its metabolic products in the blood and body tissues, especially the brain. Untreated, it can lead to MR and seizures.
Most commonly it is diagnosed bia blood phenylalanine levels but the Guthrie test (a qualitative coloration test) can also detect the presence of phenylalanine and its metabolic products. Treatment is LOW phenylalanine diet since small amounts of phenylalanine are necessary for growth and development. High protein foods should be avoided. Most treated pts have normal mental development and a normal life span. |
|
|
|
How should croup be managed before resorting to intubation?
|
a trial of racemic epinephrine - the alpha adrenergic effect reduces bronchial secretions and mucosal edema while the beta-adrenergic effect promotes better airway responsiveness via smooth muscle relaxation.
|
|
|
|
The most common cause of cerebral palsy?
|
Cerebral anoxia - clinical findings include hypotonia, HYPERactive deep tendon reflexes, learning disabilities, along with an intrapartum hx of prolonged labor and low APGAR scores at birth. It is a non-progressive disorder characteriazed by impaire motor functioning.
|
|
|
|
Problem in an infant with failure to thrive and a normal anion gap metabolic acidosis?
|
Renal tubular acidosis caused by a defect in the ability of the renal tubules to reabsorb bicarbonate or excrete hydrogen.
Screening labs will show a low bicarb level with an increase in chloride. |
|
|
|
Types of renal tubular acidosis?
|
Type I - due to a defect in hydrogen ion secretion. Pts are acidotic, hypokalemic, and have an elevated urinary pH. Often a genetic disorder. Pts commonly develop nephrolithiasis.
Type II - caused by decreased bicarbonate reabsorption in the proximal tubule. Fanconi syndrome is a common cause in children. Type 4 - caused by a defect in the sodium/potassium exchange in the distal tubule which results in hyperkalemic, hyperchloremic acidosis. In children, obstructive uropathy, renal disease or multicystic dysplastic kidneys are common causes. |
|
|
|
Why are salicylates contraindicated in children less than 15 years of age with viral infections?
|
Reye syndrome. Common presentation: vomiting, agitation, and irrational behavior, progressing to lethargy, stupor, and restlessness. Convulsions may occur.
Characteristic lab findings include hyperammonemia, normal to slightly high bilirubin and ALP, prolonged PT, hypglycemia, and moderate to severe elevations in AST, ALT, and LDH levels. Biopsy of the liver, kidneys and brain reveals microvesicular steatosis. Treatment is supportive. |
|
|
|
respiratory syncytial virus infection may increase the risk of ____ later in life.
|
asthma
|
|
|
|
Which karyotypes of Turner's syndrome are associated with a higher risk of gonadoblastoma?
|
45X/46XY - hence prophylactic bilateral gonadectomy is indicated
|
|
|
|
The inheritance mode for Turner's sydrome?
|
Sporadic NOT autosomal
|
|
|
|
Delayed separation of the umbilical cord (> 3 weeks) and necrotic peridontal infections are characteristic of?
|
Leukocyte adhesion defect
|
|
|
|
What is suspected in a sickle cell patient with acute severe anemia and abset reticulocytes in the peripheral blood smear?
|
aplastic cisis - transient arrest of erythropoiesis and is most commonly due to parvovirus B19 infection. Treatment includes blood transfusion.
|
|
|
|
Recurrent self-limiting episodes of nausea and vomiting in children of parents with a hx of migraine headaches (in the absence of any apparent cause) suggests what diagnosis?
|
Cyclical vomiting - etiology unclear. Treatment consists of anti-emetics and reassurance of the parents.
|
|
|
|
Most likely diagnoissi in a jaundiced infant of Northern European descent with severe anemia (neg Coombs test, pos osmotic fragility test)?
|
hereditary spherocytosis
|
|
|
|
Whtat is autoimmune hemolytic anemia
|
Confirmed by a postive Coombs test, caused by warm antibodies directed against RBCs. Typical pt is 2-12 years old and the anemia is usually acute and transient (frequently preceded by an infection, usually respiratory), lasting 3-6 months.
|
|
|
|
Normal physiologic hematologic changes that occur in the neonatal period?
|
1) switching from fetal to adult Hb production
2) a 30% drop in Hb 3) a fall in mean red cell volume (MCV) |
|
|
|
When can minors give informed consent?
|
If they are in the military, married, pregnant, or already a parent.
|
|
|
|
When is internal carotid aretery dissection a potential cause of strokes in children?
|
After trauma wiht a hx of a fall on a pencil or on a stick in a child's mouth. Onset of symptoms may be delayed for up to 24 hours.
|
|
|
|
Most common cause of CYANOTIC congenital dz in children less than 4 years of age?
|
tetralogy of fallot
|
large unrestrictive VSD is always present so right ventricular pressure = left ventricular pressure and aortic pressure.
pulmonary artery pressure and flow are inversely propertional to the degree of subpulmonary obstruction (pulmonary stenosis). Degree of cyanoissi correlates precisely with the amount of obstruction. |
|
|
What should be suspected in a child less than 1 year of age with pallor, macrocytic anemia, low reticulocyte count, and congenital anemia?
|
Diamond-Blackfan syndrome aka congenital hypoplastic anemia. Congenital anomalies (such as short stature, webbed neck, cleft lip, shielded chest, and triphalangeal thumbs) present in over 50% of cases.
Macrocytic anemia is unique from megaloblastic anemia bc there is no hypersegmentation of the nucleus in neutrophils. Avg age of diagnosis is 3 months with 90% of cases diagnosed before year 1. |
|
|
|
DOC in impetigo?
|
topical mupirocin or oral erythromycin.
usually due to group a beta-hemolytic strep or s. aureus. commonly associated with post-strep glomerulonephritis. |
|
|
|
What can be a serious complication of a supracondylar humerus fracture (most common type of elbow fracture that frequently occurs in ages 2-12 after a fall onto an outstretched arm with the elbow extended).
|
compartment syndrome - characterized by severe pain, pallor, pokilothermia, paresthesias, and LATE findings of pulselessness and paralysis. Treatment includes removal of any bandages, measurement of comparment pressures, and emergent orthopedic evaluation for possible fasciotomy.
|
|
|
|
Most common cause of acute bacterial sinusitis?
|
Streptococcus pneumoniae followed by Haemophilus influenzae and Moraxela catarrhalis.
|
|
|
|
Whow should mammary gland enlargement and non-purulent vaginal discharge in newborn infants be managed?
|
observation! these are benign, transitory physiologic events.
|
|
|
|
Most likely diagnosis in a young child with a flulike illness followed by respiratory distress from acute heart failure and a holosystolic murmur?
|
Myocarditis - inflammation of the myocardium leading to tissue necrosis --> worsening myocardial fxn --> dilating the heart --> increasing end diastolic volume with resultant pulmonary edema and congestive heart failure.
Hepatomegaly can develop due to passive congestion. CXR shows cardiomegaly and pulmonary edema. ECG shows low voltage QRS and sinus tachy. Echocardiography shows gloabl hypokinesis, LVH, left ventricular dysfunction, and pericardial effusion. The gold standard for diagnosis is a myocardial biopsy which also allows for dz stage classification. |
Affected chidlren should be monitored in the intensive care unit bc of risk of acute decompensation and fatal arrhythmias.
|
|
|
Most likely diagnosis in a child less than one month of age with BILOUS vomiting, abdominal distension and passage of bloodstained stools?
|
Midgut volvulus
|
|
|
|
What disease must be ruled out in a young child with recurrent URIs, persistent nasal discharge, and bilateral nasal polyps?
|
Cystic fibrosis
|
|
|
|
Clinically thalassemia trait is often confused with iron deficiency anemia. How can the two be distinguished?
|
Thalessemia trait is a microcytic anemia with mildly elevated reticulocyte count, normal RDW and normal iron studies.
Iron deficiency anemia is microcytic with LOW reticulocyte count, high RDW, and abnormal iron studies (low serum iron, low ferritin, and high TIBC). |
|
|
|
What is reticulocytosis?
|
A physiologic response of bone marrow to anemia provided that adequate iron stores are present.
|
|
|
|
What glomerular abnormalitiy might be expected in a young boy that presents with 3-day abdominal pain, a maculopapular lower extremity rash, right knee arthralgia, and a UA positive for blood and protein?
|
Immunofluorescence microscopy would reveal a mesangial deposition of IgA secondary to Henoch-Schonlein purpura, which is an IgA mediated vasculitis of small vessels.
Classic tetrad: rash, arthralgia, abdomial pain and renal dz which can occur in any order at any time following a URI in many cases. Rash is purpuric and symmetrical over lower legs, butt, or arms. Arthralgias most commonly affect the knees and ankles and are always transient with no permanent dmg to joints. GI sx include colicky abdominal pain and frequently associated with vomiting. Renal dz is common and not necessarily related to the severity of extrarenal involvement. Confirmation of diagnosis requires evidence of tissue deposition in the skin or kidney of IgA by immunofluorescence microscopy. |
|
|
|
Developmental features of a 2-year old child?
|
Can build a tower of 6 blocks, obeys two-step commands, uses two- to three- word phrases, waks up and down stairs wo help, and engages in parallel play.
|
|
|
|
What should be suspected in a newborn with bilious vomiting, abdominal distention, no bowel movement since birth, and abdominal radiography that shows air-fluid levels and a gasless lower abdomen?
|
intestinal atresia - thought to occur due to an intrauterine vascular accident that causes necrosis and resorption of a segment of bowel. Can be diagnosed by prenatal ultrasounds or abdominal radiographs after birth. XR shows air-fluid levels with a gasless lower abdomen. Duodenal atresia appears as a "double bubble" and 30-40% of affected infants will have congenital anomalies (most commonly Down's). Jejunal atresia has a "triple bubble" on XR and a 10% incidence of associated anomalies. Treatment should focus on stabilization followed by surgical correction.
|
|
|
|
Best next step in management of a young child with a 2-day hx of decreased appetite, neck swelling, and irritability who keps his head rotated slightly to one side and resists passive flexion of the neck and rotation to the opposite side?
|
XR of the neck to lok for cervical spine fracture or dislocation. This boy has acquired torticollis (aka "wryneck") which is neck twisting usually due to asymmetric muscle activity. Most common causes are URI, minor trauma, and cervical lymphadenitis and sometimes retropharyngeal abscess and atlantoaxial subluxation.
|
|
|
|
What anomalies might be expected in a down syndrome child?
|
MC is duodenal atresia with a "double bubble" sign. Other GI malformations:
Hirschsprung's dz Esophageal atresia Pyloric stenosis Malrotation of the bowel Congenital heart dz is the MCC of death in childhood. Common cardiac defects that occur: Endocardial cushion defect Ventricular septal defect Patent ductus arteriosus Acute leukemias are also common manifestations. |
|
|
|
What is Klumpke's paralysis?
|
A brachial palsy that occurs in newborns following excessive traction on the arm. It consists of hand paralysis and ipsilateral Horner's syndrome (ptosis and miosis) 2dry to injury to the 7th and 8th cervical nerves as well as the first thoracic nerve.
Confirmation is made with MRI which demonstrates nerve root avulsion or rupture. Treatment depends on severity and consists of partial immobilization and appropriate positioning to prevent contractures. Gentle massage and ROM exercises can be started by 7-1- days of age. If no improvement in 3-6 months, neuroplasty, neurolysis, end-to-end anastomosis, and nerve grafting may be attempted. |
|
|
|
MCC of subarachnoid hemorrhage in children?
|
AVM which typically produces seizures and migraine-like headaches, signs and symptoms that can help make the diagnosis.
|
|
|
|
What should be suspected in a child with nocturnal bone pain and no obvious physical or laboratory finding?
|
Growing pains - common btn ages 2-12. usually poorly localized, below the knees and bilateral. Responds to reassurance, massages, or analgesics. Resolves in the morning.
It is a diagnosis of exclusion. |
|
|
|
What is the next best step to obtain IV access if a peripheral line can not be inserted in an emergent pediatric case?
|
intraosseous - this route can also be used in adults but the greater bone density makes it more difficult.
|
|
|
|
Classic features of Prader-Willi syndrome?
|
SEVERE hypotonia, hypogonadism, hyperphagia, obesity, short stature and mental retardation. Craniofacial features include narrow bifrontal diameter, diamond-shaped eyes, and a small, down-turned mouth.
Hypothalamic dysfunctions (GH deficiency and hypogonadotropic hypogonadism) may be present. Short stature, obesity and hypotonia may respond to GH administration. |
This is a sporadic disorder with a particular type of genetic transmission called genomic imprinting.
|
|
|
Common characteristics of Henoch-Schonlein purpura?
|
Palpable purpura, peripheral edema, scrotal swelling, hematuria, proteinuria, and abdominal pain.
Intussusception and GI bleeding must be ruled out if abdominal pain is present. Intussesception is treated with air/barium enema. |
|
|
|
Pertussis prevention in close contacts?
|
A macrolide like erythromycin for 14 days, regardless of age, immunization status, or symptoms.
Infection and vaccination only confer transient protection against pertussis. |
|
|
|
DOC for absence seizures?
|
Ethosuximide or valproic acid
|
|
|
|
What are the adverse reactions to DTaP vaccine usually attributed to?
|
the pertussis component so DTaP should be substituted with only DT.
|
|
|
|
Contraindications to administration of DTaP?
|
immediate anaphylactic reaction, encephalopathy, or any CNS complication wi 7 das of adminstration of the vaccine. Administer DT only instead.
|
|
|
|
What is Todd's paralysis?
|
A postictal paralysis such as hemiparesis following seizures. The motor deficit usually improves within 24 hours. Todd's paralysis usually indicates a structural abnormality underlying the seizure is present.
|
|
|
|
What is the most common presentation of sickle cell trait?
|
PainLESS GROSS hematuria
|
|
|
|
Infants small for gestational age (i.e. weight under the 10th percentile at birth) may have what kinds of complications?
|
hypoxia --> polycythemia, hypoglycemia (due to decreased glycogen stores), hypothermia (due to decreased subQ fat), and hypocalcemia (decreased transfer of calcium across the placenta).
|
|
|
|
What is suspected in a child with a long history of poor growth, poor energy and cyanotic episodes and new-onset headaches, fevers, and focal neurologic changes?
|
Brain abscess - can present with fever, HA, focal neuro changes, seizure, spacticity or signs of increased intracranial pressure. Pts are at an increased risk of developing a brain abscess are those with congenital heart dz, head trauma, infections of th jaw or mouth, infections of the face or scalp, meningitis, or cranial instrumentation.
|
|
|
|
Treatment for Kawasaki dz?
|
Aspirin (antiplatelet and anti-inflammatory action) and IVIG.
One of the few conditions in which aspirin in children is recommended despite concern about Reye's syndrome. |
|
|
|
Next step in management of a 7-day old baby with jaundice, poor feeding, lethargy, vomiting and alteration of usual activity?
|
blood cultures and lumbar puncture.
Jaundize in the first 24 hours of life may be due to erythroblastosis fetalis, concealed hemorrhage, sepsis or congenital infections. Jaundice on the 2nd or 3rd day is usually "physiologic." Jaundice after the 3rd day and within the 1st week suggests bacterial sepsis or urinary tract infection. Neonatal sepsis rarely causes classic findings such as neck stiffness, bulgin fontanel or shock. Usual clues are poor feeding, lethargy, vomiting, or alteration of usual activity. |
|
|
|
The second most common muscular dystrophy in the US?
|
Myotonic muscular dystrophy (MMD) aka Steinert dz.
An autosomal dominant dz with distinct pathology in that ALL types of muscle (smooth, striated and cardiac) are affected. Pt is typically normal at birth, then slowly develps muscle weakness and progressive muscle wasting, especially in the distal muscles of the hands, posterior forearm muscles and anterior compartment of the lower legs. Characteristic facial appearance: temporal wasting, thin cheeks, and an upper lip in the shape of an inverted V. Pertinent PE findings: emaciated extremities, atrophy of thenar/hypothenar eminences, proximal muscle weakness, positive Gowers sign, winged scapula, and myotonia. Myotonia is delayed muscle relaxation, classically the inability to release the hand after a handshake. |
|
|
|
What preventative measure has most dramatically decreased the incidence of SIDS in the US?
|
sleeping infants in supine position
other helpful interventions: smoking cessation, use of crib that meets federal safety standards, avoidance of overheating and over bundling, and avoidance of bed sharing. |
|
|
|
How should an ingested battery be managed?
|
if lodged in the esophagus on XR - should be immediately removed by endoscopy to prevent mucosal damage and esophageal ulceration.
if distal to the esophagus - most will pass uneventfullin and need only to be observed by stool examination and followup XR to confirm excretion. |
|
|
|
What is spondylolisthesis?
|
A developmental disorder characterized by a forward slip of vertebrae (usually L5 over S1) that manifests in preadolescent children. Typical scenario is slow-developing back pain, neuro dysfunction (e.g., urinary incontinence), and a palpable "step-off" at the lumbosacral area.
|
|
|
|
What causes cyanoiss that is aggravated by feeding and relieved by crying?
|
Choanal atresia (most comman nasal malformation). Unilateral choanal atresia may remain undignosed until the infant develops his first URI. Failure to pass a catheter through the nose 3-4 cm into the oropharynx is suggestive of the diagnosis. Diagnosis is confirmed by CT scan with intranasal contrast showing narrowing at the level of the pterygoid plate. First step in management consists of placing an oral airway and lavage feeding. Definitive treatment involves reparing the obstruction with surgery or endoscopy.
|
|
|
|
How does a riboflavin deficiency present?
|
Unusual in industrialized nations and documented in regions of the world with severe food shortages. US pts are typically have anorexia, malabsorptive syndromes, or rare inborn defects in riboflavin synthesis.
Typically mild and nonspecific in presentation with symptoms like sore throat, hyperemic and edematous oropharyngeal mucous membranes, chelitis, stomatitis, glossitis, normocytic-normochromic anemia, seborrheic dermatitis, and photophobia. |
|
|
|
What does water intoxication cause?
|
hyponatremia leading to seizures.
other manifestations include CNS changes such as AMA. |
|
|
|
MCC of isolated proteinuria in children?
|
transient proteinuria - can be reevaluated with a repeat urine dipstick testing on two separate occasions to rule out persistent proteinuria which requires further evaluation for underlying renal dz.
Transient proteinuria can be caused by fever, exercise, seizures, stress, or volume depletion. |
|
|
|
DOC in persistent nocturnal enuresis?
|
DDAVP (desmopressin). Imipramine is second line.
Bedwetting is considered normal until the age of 4-5. |
|
|
|
Most common leukemia in children?
|
ALL - diagnosis is suggested by the presence of anemia, thrombocytopenia and blast cells on a peripheral blood smear. Diagnosis is confirmed by greater than 25% lymphoblasts in the bone marrow.
|
|
|
|
Most common cause of communicating hydrocephalus?
|
Subarachnoid hemorrhage - accumulation of the blood in the subarachnoid space may lead to destruction of the arachnoid villi and cisterns (whose fxn is to absorb the CSF fluid), thereby blocking the flow or decreasing the absorption of CSF, and leading to hydrocephalus. Intraventricular hemorrhage is a common cause of SAH in premature infants.
|
|
|
|
Treatment for transient synovitis?
|
Restricted weight bearing and NSAIDS. Transient synovitis typically occuurs in male children ages 3-10 following mild trauma or viral infection. They present with a limp or unilateral hip/knee pain. On PE, hip will be flexed, slightly abducted, and externally rotated with complaints of pain with palpation or passive motion.
Lab findings: slightly elevated WBC and ESR. Four criteria help to r/o septic arthritis: 1) WBC > 12,000 2) temp > 39 or 102 3) ESR > 40 4) refusal to bear weight **if 3 of 4 criteria are met, further workup to r/o septic arthritis is required. |
|
|
|
When should screening in children for visual impairments occur?
|
children aged 0-5
|
|
|
|
When should meningococcal vaccination in children take place?
|
Btn 11-12 years of age. Children of high risk of dz (asplenic) may be vaccinated as early as 2 years.
|
|
|
|
What accounts for 80% of cases of nephrotic syndrome in children?
|
minimal change dz - highly steroid-sensitive condition!!
|
|
|
|
Most likely diagnosis of newborn with bilious vomiting, failure to pass meconium at birth, and ground glass appearance on abdominal XR?
|
meconium ilius - other clues include hx of polyhydramnios and family hx of CF.
Possible complication of meconium ilius=intestinal perforation. If perforation occurs after birth, pneumoperitoneium will be seen on XR. If it occurs before birth, intraabdominal calcification will be seen. |
|
|
|
What type of substance abuse in pregnancy is not associated with dysmorphic features or congenital anomalies in the fetus?
|
opiates like heroin and methadone - prenatal exposure CAN lead to incr risk of intrauterine growht retardation, macrocephaly, SIDS, and neonatal abstinence syndrome.
NAS usually presents in the first few days of life and is characerized by irritability, a high-pitched cry, poor sleeping, tremors, seizures, sweating, sneezing, tachypnea, poor feeding, vomiting, and diarrhea. Withdrawal usually presents wi 48 hours after birth for heroin and btn 48-72 hours for methadone withdrawal. Tx for NAS is symptomatic care. Morphine can be administered and systematically weaned to help control opiate withdrawal. |
|
|
|
gram positive diplococci
|
Strep pneumoniae
|
|
|
|
gram positive cocci in clusters
|
staphylococcus
|
|
|
|
gram-negative cocci
|
Neisseria
|
|
|
|
gram-positive rods
|
Listeria and Bacillus
|
|
|
|
Gram negative rods
|
Pseudomonas, Haemophilus, Klebsiella, Legionella
|
|
|
|
Most common organisms causing pulmonary infections in CF pts?
|
Pseudomonas, Haemophilus, and Staphylococcus
|
|
|
|
What should be suspected in a pt with acute onset headaches and focal neurologic symptoms after an episode of acute otitis media or sinusitis?
|
brain abscess - ring enhancing lesions are seen on CT or MRI.
|
|
|
|
how should mild to moderate dehydration in children be managed?
|
oral rehdryation therapy
|
|
|
|
How should moderate to severe dehydration in children be managed?
|
IV bolus of isotonic fluid.
|
|
|
|
What should be suspected in a cyanotic infant with left axis deviation?
|
tricuspid atresia
VSDs (holosystolic murmur on auscultation) occur in 90% of cases. Transposition of the great arteries occur in 30% of cases. Interestingly, associated heart defects such as ASD, VSD, or PDA are necessary for survival. EKG reveals LVH and left axis deviation since the left ventricle handles both pulmonary and systemic venous returns. Echocardiogram shows fibromuscular membrane in place of a tricuspid valve, a variably small right ventricle, ventricular septal defect, and a large left ventricle. Treatment includes PGE1 to keep the ductus arteriosus open and baloon arterial septostomy (if the ASD is not large enough to allow an adequate flow from the right to left atriums). |
|
|
|
What is a fatal complication common in an infant pt with meningococcemia?
|
Waterhouse-Friderichsen syndrome (adrenal gland failure) - characterized by a sudden vasomotor collapse and skin rash due to adrenal hemorrhage. Carries almost 100% mortality rate.
|
|
|
|
What is a distinguishing feature between autism and Asperger syndrome?
|
In Asperger syndrome, the language development is normal and these pts are usually more socially aware and communicative.
|
|
|
|
What should be suspected in a Down's syndrome pt showing upper motor neuron signs such as leg spacticity, hyperreflexia, a positive Babinski sign, or clonus?
|
Atlantoaxial instability - this malformation seen in 10-15% of pts with Down's occurs due to excessive laxity in the posterior transverse ligament causing increased mobility between the atlas (C1) and the axis (C2). Only 1-2% with this abnormality are symptomatic. Presenting symptoms include behavioral changes, torticollis, urinary incontinence, and vertebrobasilar symptoms such as dizziness, vertigo, and diplopia. PE findings will include upper motor neuron signs such as leg spacticity, hyperreflexia, a positive Babinski sign, or clonus.
It is diagnosed with lateral radiographs of the cervical spine in flexion, extension, and neutral position. Open mouth radiographs can also be helpful. Tx consists of surgical fusion of C1 to C2. |
|
|
|
MCC of intestinal obstruction in the first two years of life, with 75% of pts younger than 1 year?
|
intussusception - cause is mostly idiopathic. Most common type is in the ileocolic region.
|
|
|
|
3 P's of McCune-Albright syndrome?
|
1) Precocious puberty
2) Pigmentation (cafe au lait spots) 3) Polyostotic fibrous dysplasia (multiple bone defects) It is a sporadic condition that has been attributed to a defect in the G-protein cAMP-kinase function in the affected tissue resulting in autonomous activity of that tissue. It is associated with other endocrine disorders such as hypERthyroidism, prolactin- or GH- or secreting pituitary adenomas, and adrenal hypercortisolism (Cushing's syndrome) |
|
|
|
What organism should be suspected in an inflamed, fluctuant cervical lymph node?
|
Streptococcal or staphylococcal infection - antibiotic of choice for treatment is dicloxacillin. Other effective antibiotics include cehpalexin or clindamycin.
Note: dicloxacillin will treat MSSA but NOT MRSA. |
|
|
|
Increased demand for what nutrient exists in pts with chronic hemolytic anemia and compensatory reticulocytsis (like in sickle cell)?
|
folic acid
|
|
|
|
criteria for ADHD?
|
1) sx present for > 6 months
2) sx present since age 7 3) sx observed in > 1 setting (i.e. school and home) 4) poor concentration, distractibility, elevated motor activity and impulsivity |
|
|
|
classic triad of congenital rubella syndrome?
|
sensorineural deafness, cardiac malformations (i.e. PDA and ASD), and cataracts
Occurs most commonly when transmission of infection occurs in the first 4 wks of pregnancy. Causative agent = Toga virus |
|
|
|
What supports clinical diagnosis of Kawasaki dz?
|
fever > 39C for 5 days as well as 4 out of the 5 following criteria:
1) extremity changes such as erythema, edema, or desquamation of the hands and feet 2) conjunctivitis - usually bilateral and nonpurulent 3) rash on the trunk 4) cervical lymphadenopathy which must be 1.5 cm and is usually unilateral 5) oral changes which can include erythema, fissured lips, or a strawberry tongue Kawasaki dz is an acute vasculitis of the medium-sized arteries. May be autoimmune in nature with an infectious trigger. Peak age at presentation is 18-24 months with 80% of cases in children less than 5 years. |
|
|
|
Serious complication of Kawasaki dz?
|
coronary artery aneurysm - all pts diagnosed with Kawasaki should have baseline and follow up echocardiograms to rule out coronary artery aneurysms. Treatment includes IVIG and aspirin. Aspirin is usually given at high doses (80-100 mg/kg/day) initially and then decreased to a low dose for maintenance anti-platelet therapy for another 6-8 weeks or longer depending on echocardiogram results.
|
|
|
|
How long must behavioral patterns that violate basic social norms persist for before considered a conduct disorder?
|
one year
|
|
|
|
what organism should be suspected in acute, unilateral cervical lymphadenitis in children?
|
bacterial infection - most common pathogen is Staphylococcus aureus followed by group A streptoccocus
|
|
|
|
What is the appropriate management of a septic joint in a child?
|
Immediate surgical drainage - delay of even 4-6 hours can lead to avascular necrosis of the femoral head.
like osteomyelitis, septic arthritis is usually hematogenous in origin and frequently follows an URI. Most common organism is S. aureus or streptococcus. Ultrasound guided aspiration of the synovial fluid with a white cell count of more than 100,000 confirms diagnosis. An xray is ofen normal. Empiric antibiotics should be started. In infants, an antistaphylococcal agent (nafcillin or vanco) and a 3rd generation cephalosporin is a good choice. For children over 5 years, an antistaphylococcal agent alone is reasonable. |
|
|
|
Most common lysosomal storage dz?
|
type 1 Gaucher's dz - results from deficient activity of the lysosomal enzyme, acid beta-glucosidase. Commonly presents during the adolescent period with chronic fatigue, easy bruisability, bone pain, and pathological fractures. Diagnosis is confirmed via XR showing Erlenmeyer flask deformity of the distal femur and bone marrow studies with Gaucher cells (wrinkled paper appearance).
|
|
|
|
Pathophysiology of physiologic jaundice?
|
Increased bilirubin production (due to shorter life pan and greater turnover of neonatal RBC), decreased bilirubin clearance (due to the deficiency of UGT), and increased enterohepatic circulation.
|
Appears during 2nd to 3rd day of life and resolves wi the first several weeks after birth.
|
|
|
What is the likely diagnosis in a pt who develops a polymorphous rash after taking ampicillin (or amoxicillin) for an apparent URI?
|
infectious mononucleosis caused by Epstein-Barr virus
|
|
|
|
What mutation causes chronic granulomatous disease?
|
Loss or inactivation of the NADPH oxidase responsivle for oxidation of pathogens within phagocytes. Pts have recurrent infections starting early in life and are especially susceptible to catalase-expressing organisms like Staphylococcus aureus.
|
|
|
|
Common complication of sickle cell anemia causing significant joint pain and functional limitation?
|
osteonecrosis aka avascular necrosis - 2ndry to red cell sicling, microinfarctions, and bone hyperplasia. Up to 50% will develop osteonecrosis by childhood. Most common sites are humeral and femoral heads. Tx is pain mgmt and limitation of weight bearing.
|
|
|
|
Early vs late signs/symptoms of congenital syphillis?
|
early - cutaneous lesions on the palms/soles, hepatosplenomegaly, jaundice, anemia, and rhinorrhea. Radiographs demonstrate metaphyseal dystrophy and periostitis.
Late manifestations (after 2 years of age) - frontal bossing, high arched palate, Hutchinson teeth, interstitial keratitis, saddle nose, and perioral fissures. |
|
|
|
Next step in management of a pt with severe coughing paroxysms resulting in subcutaneous emphysema (wherein air leaks from the chest wall into the subcutaneous tissue due to high intraalveolar pressure provoked by cough)?
|
chest XR to r/o pneumothorax
|
|
|
|
What should be suspected in a pt with a normal number of CD3-positive cells (T-cells) but a very low number of CD19-positive cells (B-cells)?
|
Bruton's agammaglobulinemia aka X-linked agammaglobulinemia due to a defect in tyrosine kinase signaling molecule needed for B-cell development. Affected pts have recurrent respiratory tract bacterial infections including sinusitis, otitis media, and pneumonia btn 6-18 months of age. PE may reveal absent tonsils and other palpable lymphoid tissue.
Treatment is regular infusions of IVIG. |
|
|
|
Likely diagnosis in a small for gestational age infant or a post-mature infant with signs of respiratory distress, rales, rhonchi, nasal flaring, gruntin, use of accessory muscles with typical chest XR showing a flattening of the diaphragm, hyperinflation, coarse streaking and patchy opacities over both lung fields?
|
Meconium aspiration - most common in low birhtweight and post-mature infants.
Hyperinflation occurs 2ndry to valve-like mechanism by which meconium obstructs the airways leading to a barrel-shaped chest. |
|
|
|
Classic triad of congenital toxoplasmosis?
|
chorioretinitis, hydrocephalus, and intracranial calcifications
|
|
|
|
What should be supplemented in the diet of a premature infant being breast-fed?
|
oral ferrous salts or iron-fortified milk formula to prevent anemia of prematurity.
|
|
|
|
What is the most likely cause of Parinaud's syndrome (paralysis of vertical gaze) plus Collier's sign (pupillary disturbances and eyelid retraction)?
|
A rostral midbrain lesion at the level of the superior colliculus and CN III. Usually due to a pineoloma or germinoma.
|
|
|
|
What is both diagnostic and therapeutic in septic arthritis?
|
arthrocentesis!
blood cultures and synovial fluid cultures must be obtained prior to administering empiric IV antibiotics with IV nafcillin. |
|
|
|
What does PE show in a pt with a small PDA?
|
often unremarkable or with a mildly accentuated peripheral pulse. Small PDAs are often asymptomatic and detected incidentally on routine cardiac auscultaiton.
|
|
|
|
A 5p chromosomal deletion causes?
|
Cri-du-chat syndrome presenting as microcephaly, hypotonia, short stature, and a cat-like cry
|
|
|
|
Most common complication of a supracondylar fracture?
|
Entrapment of the brachial artery causing loss of the radial artery pulse. After reduction of the fracture, the radial pulse must be reassessed in ALL pts.
|
|
|
|
Howell-Jolly bodies signify?
|
nuclear remnants of RBCs, which are normally removed by a FUNCTIONAL spleen. Therefore their presence suggests splenectomy or functional asplenia.
Funcitonal asplenia renders a pt susceptible to infections, particularly from capsulated organisms such as pneumocci. |
|
|
|
Heinz bodies are commony seen in?
|
Pts with hemolysis due to G6PD deficiency and thalassemia. Heinz bodies are aggregates of denatured hemoglobin. Phagocytes normally extract this rigid precipitate forming "bite" cells.
|
|
|
|
what is basophilic stippling?
|
ribosomal precipitates - often seen in thalassemias and lead or heavy metal poisoning.
|
|
|
|
Next step in management of an epidural hematoma (associated with a lucid interval followed by rapid neurological deterioration)?
|
emergent craniotomy
|
|
|
|
DOC for pertussis ("whooping cough")?
|
macrolide ABX (azithromycin, clarithromycin, or erythromycin) regardless of age or immunization status.
|
|
|
|
What is the diagnosis when an intravenous pyelography shows focal parenchymal scarring and blunting of calices?
|
chronic pyelonephritis
|
|
|
|
Most likely diagnosis in a pt with craniotabes, rachitic rosary, Harrison groove, large anerior fontanelle, and thickening of the wrists and ankles with limited sun exposure?
|
Vitamin D deficiency rickets - common early manifestations are craniotabes (ping-pong ball sensation over the occiput or posterior parietal bones), rachitic rosary (enlargement of the costochondral junctions), and thickening of the lower end of long bones (wrists/ankles). Other findings include Harrison groove (horizontal depression on lower border of chest) and a large anterior fontanelle. Typical in pts with low-birth weight, unsupplemented dark-skinned infants, infants with inadequate sun exposure, and solely breastfed infants.
Diagnosis is confirmed by DECR serum cacifediol levels, INCR alkaline phosphatase, and characteristic XR findings such as cupping/fraying of distal ends of long bones and double contour along the lateral outline of the radius. Tx includes oral Vitamin D administration and adequate sunlight(or artificial light) exposure. Current recommendation to prevent rickets is oral Vit D beginning during the first 2 months of life and continuing until early adolescence. |
pathology is defective mineralization of growing bone or osteoid tissue.
|
|
|
What should be suspecte in a neonate with severe dehydration in the presence of hyponatremia, hyperkalemia, hypoglycemia, and metabolic acidosis?
|
congenital adrenal hyperplasia or salt wasting 21-hydroxylase deficiency. Results in deficient synthesis of both glucocorticoid and mineralocorticoids. Accumulated glucocorticoid PREcursors are converted to androgenic steroids causing shortened stature, early puberty, severe acne, and virilization and infertility in females. Mineralocorticoid deficiency results in electrolyte disturbances, hypOtension, and syncope. Note: Male infants will not present with ambiguous genitalia at birht unlike female infants - often the reason it goes undiagnosed until 2-4 weeks of age when salt wasting features begin to present
|
|
|
|
What structure is affected in Guillain-Barre sydnrome?
|
mainly the peripheral nerves
|
|
|
|
What is breastfeeding jaundice?
|
An exaggeration of physiologic jaundice common in exclusively breastfed infants who are ot getting enough breast milk. When effective breastfeeding is not established in the first few days of life, the inadequate enteral intake prolongs the intestinal transit time, resulting in an increased enterohepatic circulation, In addition the infant becomes relatively dehydrated from limited fluid intake. The increased enterohepatic circulation and relative dehydration together cause an elevated unconjugated bilirubin level in the first few days after birth.
Initial management is to increase the frequency and duration of feedings to stimulate more milk production. Reevaluate with repeat bilirubin in 12-24 hours. |
|
|
|
How can breast feeding jaundice be distinguished from breast milk jaundice?
|
Breast milk jaundice usually starts after the first 3-5 days of life and peaks 1-2 weeks after birth and can last several months. Etiology is unclear but thought that a substance in breast milk may inhibit UDPGA (uridine diphosphoglucuronic acid glucuronyl transferase) or that increased beta glucuronidase activity in breast milk may increase the enterohepatic circulation of bilirubin.
|
|
|
|
Bilirubin level > 25 mg/dL is an indication for?
|
exchange transfusion
|
|
|
|
What should be suspected in a 3-month old patient with hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia, a doll-like face (fat cheeks), thin extremeties, short stature, and a protuberant abdomen, but a normal heart and spleen?
|
Glucose-6-phosphatase deficiency - aka type I glycogen storage disease and Von-Gierkes disease. Caused by deficient glucose-6-phosphaTASE in the liver, kidneys, and intestinal mucosa. The typical pt is the same as this vignette. The protuberant abdomen is due to the enlarged liver and kidneys. In addition, hypoglycemic seizures may occur.
|
|
|
|
How does acid maltase deficiency aka type II glycogen storage disease and Pompes' disease present?
|
Hepatomegaly plus a "floppy baby" with feeding difficulties, macroglossia, and heart failure (due to progressive hypertrophic cardiomyopathy) within the first few weeks of life.
|
|
|
|
How does type III glycogen storage disease (deficiency of glycogen debranching enzyme activity) present?
|
Similar clinical manifestations to type I glycogen storage disease (eg., hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation). It is distinguised from type I by the lab findings - elevated liver transaminases, fasting ketosis, and normal blood lactate and uric acid concentrations. Other pertinent findings are splenomegaly and normal kidneys.
|
|
|
|
How does type IV glycogen storage disease aka amylopectinosis (deficiency of branching enzyme activity) present?
|
typical patient is in the first 18 months of life with hepatosplenomegaly and failure to thrive. Most common pathology is cirrhosis of the liver.
|
|
|
|
How do pts with liver phosphorylase deficiency present?
|
hepatomegaly and growth retadation early in childhood plus mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels are normal.
|
|
|
|
MOst common esophageal anomaly?
|
esophageal atresia with a tracheoesophageal fistula - characterized by an atretic esophageal pouch that communicates distally with the trachea allowing air to enter stomach which leads to distention. The discontinuous esophagus prevents the infant from completely swallowing, thereby resulting in drooling and regurgitant feeding. Gastric fluid ascends into the distal esophagus through the fistula, into the trachea and lungs thereby producing aspiration pneumonia. Pneumonitis and atelectasis frequently occur ("rattles" during breathing). Inability to pass a feeding tube into the stomach is suggestive of esophageal atresia with or without tracheoesophageal fistula. Esophageal symptoms BEGIN with the FIRST FEEDING.
|
|
|
|
Most common congenital heart defect in Down's syndrome?
|
endocardial cusion defect of the atrioventricular (AV) canal. A left to right shunt from the absence of the septum and/or defect can rapidly develop into pulmonary hypertension, which is a manifested as a loud P2 on auscultation. Partial or complete AV canal defects must be corrected early via surgery to prevent pulmonary HTN.
**ASD can also occur in Down's but the left to right shunt is LOW flow and these patients rarely develop pulmonary HTN in early life. Most cases are repaired before school age. It is one of the few congenital heart disorders that do NOT develop endocarditis. |
|
|
|
What is the prodrome of measles (rubeola) like?
|
consist of fever, non-productive cough, coryza, non-purulent conjunctivitis, and Koplik spots. Koplik spots are pathognomonic of measles and are bluish-white lesions (sometimes appear like table salt crystals) on the erythematous buccal mucous membranes opposite to the first and second upper molars, and sometimes the inner conjunctivae and vaginal mucosa. The measles rash starts on the face bu spreads to the trunk and extremeties. Diagnosis is mostly clinical and can be supported by a fourfold rise in hemagglutination inhibition antibody titer.
|
|
|
|
Is fever present in erythema infectiosum or fifth disease caused by human parvovirus?
|
fever is not present or very mild in this disease!
look for rash with a slapped cheek appearance. |
|
|
|
Most common cause of infantile febrile seizures?
|
Exanthema subitum, sixth disease or roseola caused by human herpes virus 6. Primarily seen in infants and characterized by HIGH fever for 3-4 days. Unlike fifth disease, the rash SPARES the face and appears AFTER the fever.
|
|
|
|
What is 3-day measles?
|
Rubella with a mild prdromal stage - mild fever and malaise plus posterior cervical lymphadenopathy. Patchy erythema on the throat and palate. Rash is FINE, pink, maculopapular and occurs in RAPID progression (3 days) from face to trunk
|
|
|
|
When should aplastic anemia be suspected?
|
in any patient with pancytopenia FOLLOWING drug intake (chemotherapy or ABX such as chloramphenicol), exposure to toxins (insecticides, benzene, carbon tetrachloride) or viral infections. A bone marrow biopsy is essential to make the diagnosis, which typically shows profound hypOcellularity with a decrease in all cell lines and a fatty infiltration of the marrow.
|
|
|
|
Indications for the evaluation of neonatal jaundice?
|
1) conjugated hyperbilirubinemia > 2 mg/dL
2) jaundice that appears in the first 24-36 hours of life 3) serum bilirubin rising at a rate faster than 5 mg/dL/24 hours 4) serum bilirubin > 12 mg/dL in a full-term or 10-14 mg/dL in a preterm infant. 5) jaundice persists after 10-14 days of life. 6) The presence of signs or symptoms. |
|
|
|
What should be suspected in a jaundiced infant in association with light colored stools, hepatomegaly, and direct (conjugated) hyperbilirbinemia > 2mg/dL?
|
neonatal cholestasis and impaired hepatic excretion of bilirubin, either by extrahepatic obstruction or liver cell injury.
|
|
|
|
What is erythema toxicum?
|
A benign, self-limited condition in healthy newborns after the first 2 days characterized by an evanescent rash and distinctive red halos surrounding the lesions. Eosinophils in the pustules is diagnostic. No treatment is necessary.
|
|
|
|
A subperiosteal hemorrhage that presents a few hours after birth as scalp swelling always limted to one cranial bone with no discoloration of the overlying scalp?
|
Cephalohematoma - Does not require treatment. Will resorb spontaneously within 2 wks to 3 months depending on the size.
|
|
|
|
Best approach to evaluating a child with rapidly increasing head circumference associated with symptoms of poor feeding, irritability, vomiting, and decreased activity?
|
CT scan of the brain is the best initial choice.
Dilated ventricles indicates hydrocephalus. Treatment consists of a shunt that is placed from the ventricle to the peritoneum, pleura, or right atrium, which allows excess CSF to drain rather than continue to collect in the ventricles. |
|
|
|
A newborn male with oliguria and a midline mass in the lower abdomen. Diagnosis?
|
Posterior urethral valves - a congenital lesion that allows ony small volumes of urine to pass. The midline lower abdominal mass probably represents a distended bladder. AFfected infants may develop hydronephrosis, azotemia, and failure to thrive. A voiding cystourethrogram is the diagnostic test of choice.
|
|
|
|
Neonatal tetanus?
|
An infection caused by Clostridium tetani generally seen in infants born to unimmunized mothers, frequently following umbilical stump infection. Affected infants present int he first 2 weeks of life with poor suckling and fatigue, followed by rigidity, spasms and opisthotonus. Mortality rate is very high due to apnea (in the first week of life) and septicemia (in the second week) secondarily to the infection that orignated from the umbilical stump.
|
|
|
|
Criteria for PKU aka phenylketonuria?
|
1) plasma phenylalanine level > 20 mg/dL
2) normal to low-normal plasma tyrosine level 3) increased urinary levels of phenylalanine metabolites (phenylpyruvic and o-hydroxyphenylacetic acids) 4) normal tetrahydrobiopterin level The classic presentation is a child with fair skin and blue eyes who is normal at birth but begins to manifest a musty or mousy odor of the urine, eczema, vomiting, failure to thrive, developmental delay, and metatabolic acidosis. |
|
|
|
What enzyme is deficient in tyrosinemia?
|
fumarylacetoacetate hydrolase - affected infants may be symptomatic as early as the 2nd wk of life. Pts may smell like boiled cabbage.
|
|
|
|
Deficient enzyme in alkaptonuria?
|
homogentisic acid oxidase. the presence of homogentisic acid in the urine confirms diagnosis.
|
|
|
|
Most common cause of headaches in the pediatric population?
|
fever is present. Initial treatment is acetaminophen or NSAIDs.
|
|
|
|
Management of leukocoria?
|
Every case is considered retinoblastoma until proven otherwise; therefore such cases requre prompt referral to an opthamologist
|
|
|
|
High levels of IgM with deficiency of IgG, IgA and poor specific antibody response to immunizations?
|
Hyper-IgM syndrome (HIM)
|
|
|
|
Increased gastric residual volume in a preterm neonate is highly suspicious for ____?
|
necrotizing enterocolitis
|
|
|
|
Spontaneous hemarthrosis raises suspicion for?
|
Hemophilia, for which factor VIII assay is diagnostic. Prologned PTT, normal PT, normal bleeding time, normal fibrinogen and LOW serum factor vIII activity are the typical findings. Standard treatment is to replace factor VIII. However mild hemophilia may be treated with desmopressin which causes release of factor VIII from the endothelial cells.
|
|
|
|
Most appropriate next step in management of a child suspected to have lead poisoning?
|
Check a serum lead level. CApillary blood specimens using a fingerstick are widely used for screening but false positives are common. Serum lead level > 10micrograms/dL confirms diagnosis.
Risk factors for lead poisoning: old house, lead pipes, living near a battery recycling plant, a parent who works with batteries or pottery, or a playmate/sibling with history of lead poisoning. |
|
|
|
Treatment for rheumatic fever (caused by group A streptococcus)?
|
Benzathine penicillin G; May require additional therapy in patients with chorea, pericarditis, and arthritis such as anti-epileptics, salicylates, and codeine.
|
|
|
|
Who should receive rabies prophylaxis?
|
Those exposed to bats or bitten by wild carnivores like raccoons, skunks, and foxes or by domestic animals suspected of being rabid.
|
|
|
|
What is laryngomalacia?
|
Congenital flaccid larynx - it is the most common cause of chronic insiratory noise in infants. Diagnosis is confirmed by direct laryngoscopy with a finding of an 'epiglottis rolling in from side to side' which demonstrates flaccidity of the larynx collapsing during inspiration. It is a self-limiting condition in most cases, and generally subsides by 18 months. The mother should be instructed to hold the child in an upright position for half an hour after feeding, and to never feed the child when he is lying down.
|
|
|
|
fluid choice for initial resuscitation in sever hypovolemic hypERnatremia?
|
0.9% saline - only normal saline or lactated Ringer's should be used as IV fluid BOLUSES. Furthermore, hypOtonic solutions would lower the sodium too rapidly with the possible risk of cerebral edema.
|
|
|
|
The most common predisposing factor for acute bacterial sinusitis?
|
A viral upper respiratory infection. Symptoms may last 10-30 days without improvment. First line treatment for acute bacterial sinusitis is amoxicillin with or without clavulanic acid.
|
|
|
|
Which sinuses are present at birth?
|
The maxillary and ethmoid sinuses are present at birth. The sphenoid sinuses begin developing in the first few years of life and the frontal sinuses are not completely developed until age 9-10.
|
|
|
|
Criteria for postexposure prophylaxis for chicken pox with VZIG (varicella zoster immune globulin) or acyclovir?
|
1) high risk persons - immunocompromized susceptible children, immunoCOMPETENT susceptible adolescent and adults (especially pregnanty women), hospitalized premature infants
2) Exposure criteria - continuous hosehold contact, playmate for > 1hour indoor, hospital contact, mother with onset of chicken pox < 5 days before or < 2 days after delivery. 3) time of administration - preferably within 72 hours of exposure (wi 96 hours at most) |
|
|
|
Developmental milestones of a 6 year old?
|
Sits well unsupported, enjoys looking around, babbles, recognizes strangers (stranger anxiety), and has a raking grasp.
|
|
|
|
What is the vaccination schedule for preterm infants?
|
Vaccinations should be given according to the child's chronological age, not gestational age. This is bc prematurity does not markedly change the immune response to vaccines and the risk of infection and complications in preterm infants is greater than than term babies. The exception is that children should be 2 kg prior to receiving the first hepatitis B vaccine.
|
|
|
|
What is responsible for keeping an infant with Bruton's agammaglobulinemia free from infections in the first 6-9 months of life?
|
Maternal igG antibodies
|
|
|
|
How is common variable immunodeficiency aka acquired hypogammaglobulinemia distinct from Bruton's agammaglobulinemia?
|
1) less severe symptoms at a later age (~ 15-35 years of age)
2) no absence or decrease in the number of circulating B cells 3) no sexual predominance in CVID |
|
|
|
IgG2 subclass deficiencies are commonly associated with?
|
Selective IgA deficiency
|
|
|
|
What defect in development leads to the hypoplastic/aplastic thymus and parathyroid clands in DiGeorge syndrome?
|
3rd and 4th pharyngeal pouches.
|
|
|
|
When is surgery for an umbilical hernia advised?
|
If it persists to the age of 3-4 years, exceeds 2 cm in diameter, causes symptoms, becomes strangulated, or enlarges progressively after the age of 1-2 years.
|
|
|
|
What should be suspected in a 3-7 year old child with acute respiratory distress, toxic appearance (i.e., sitting up, leaning forward, drooling), stridor and high-grade fever? How is it managed?
|
Epiglottitis - a pediatric emergency. Secure the airway as soon as possible with endotracheal intubation and set-up for possible tracheostomy (since intubation of such pts is often difficult). Visualization of the epiglottis should not be attempted.
|
|
|
|
Why do infants with congenital hypothyroidism initially appear normal at birth?
|
Presence of moderate amounts of naternal hormones in the infant's circulation. These infants gradually develop apathy, weakness, hypOtonia, large tongue, sluggish movement, abdominal bloating, and an umbilical hernia. Most common cause is thyroid dysgenesis which may be familial or sporadic. Screening for this should be done at birth along with PKU and galacosemia. Screening is done by serum T4 and TSH levels. Treatment is levothyroxine.
|
|
|
|
Involves degeneration of the anterior horn cells and cranial nerve motor nuclei?
|
Werdnig-Hoffman syndrome - the other cause of "floppy baby syndrome"
|
|
|
|
What should be suspected in a child with isolated thrombocytopenia after a viral infection?
|
immune thrombocytopenia - ivolves antibodies that bind to platelets with destruction in the spleen. Course is self-limited with spontaneous recovery. Corticosteroids are the drugs of choice if platelets are < 30,000/mm3 and/or for severe symptoms. Otherwise observe!
|
|
|
|
Risk factors for respiratory distress sydnrome aka hyaline membrane disease OTHER than prematurity?
|
male sex, C-section wo labor, perinatal asphyxia, and maternal diabetes.
|
|
|
|
Why does maternal diabetes delay the maturity of surfactant production in the lungs of the fetus?
|
Hyperinsulinism antagonizes the actions of cortisol and may delay the lung maturation process.
|
|
|
|
First step in management of an infant with suspected congenital diphragmatic hernia?
|
Placement of an orogastric tube, connecting it to a continuous suction in order to prevent bowel distention and further lung compression. Endotracheal intubation and mechanical ventilation may also be needed if severe CDH is present.
|
CDH is sometimes associated with primary pulmonary hypertension of the newborn (PPHN).
|
|
|
What may help to distinguish microcytic anemia caused by iron deficiency versus thalassemia or anemia of chronic dz?
|
RDW > 20% is typical in iron deficiency whereas RDW is normal in thalassemia and anemia of chronic dz.
Pts with iron deficiency also have a LOW reticulocyte count. |
|
|
|
Difference between early-onset and late-onset neonatal sepsis caused by GBS?
|
Early sepsis presents in the first week of life and usually involves several organs including respiratory failure, meningitis, DIC, acute tubular necrosis, and peripheral gangrene.
Late onset GBS is usually a focal infection, most frequently (75%), although arthritis, osteomyelitis, cellulitis, and urinary tract infection may also occur. Workup should include blood, CSF, and urine cultures. |
|
|
|
Most common mutation leading to cystic fibrosis?
|
deletion of a 3-base pair encoding for phenylalanine (DF508) in the CFTR gene located on chromosome 7. It is believed that the mutation prevents the CFTR protein from trafficking to the correct cellular location.
|
|
|
|
Diagnostic features of severe combined immune deficiency?
|
absent lymph nodes and tonsils, lymphopenia, absent thymic shadow on CXR, and abnormal T/B/natural killer cell enumeration on flow cytometry.
|
|
|
|
A stranger should be able to understand how much of a 2-year old's speech?
|
about 50%
|
|
|
|
Develepmental features of a 1-year old?
|
Walks alone, speaks 2 words, obeys 1-step commands, throws objects, comes when called and imitates actions.
|
|
