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327 Cards in this Set
- Front
- Back
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name the trisomy
endocardial cushion defects, duodenal atresia, Hirschsprung's disease, hypothyroidism, mental retardation (MR), leukemia, Alzheimer's-like dementia |
trisomy 21 (Down's syndrome)
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name the trisomy
rocker-bottom feet and micrognathia |
Trisomy 18 (Edward's syndrome)
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name the trisomy
microphthalmia, polydactyly, microcephaly, and cleft lip/palate |
trisomy 13 (patau syndrome)
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name the trisomy
most common chromosoal abnormality |
trisomy 21
downs syndrome |
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What syndrome is characterized by the karyotype 45XO?
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turner's syndrome
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Name 5 dysmorphic features associated with Turner's syndrome
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1. lymphedema of the hands and feet
2. shield-shaped chest 3. widely spaced nipples 4. webbed neck 5. low hair line |
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name three common cardiac defects associated with Turner's syndrome
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1. coarctation of the aorta
2. bicuspid aortic valve 3. aortic stenosis |
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what gonadal abnormality occurs in 100% of Turner's patients?
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gonadal dysgenesis
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What is the most common cause of hypogonadism in males?
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Klinefelter's syndrome (47XXY)
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What are 5 clinical manifestations of Klinefelter's syndrome?
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1. small phallus
2. small testes (hypospermia) 3. gynecomastia 4. increased height 5. learning disability with normal IQ |
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What is a Barr body?
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An inactivated X chromosome associated with Klinefelter's syndrome
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What hormone is used to treat Klinefelter's syndrome?
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testosterone (improves secondary sexual characteristics and prevents gynecomastia)
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What syndrome is associated with uncontrollable appetitie and Pickwickian syndrome?
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Prader-Willi syndrome
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What is the mode of inheritance in Prader-Willi syndrome?
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paternal imprinting
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What disease is known as the "happy puppet" syndrome?
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Angelman syndrome (due to ataxic gait and tiptoe walk, patients also have severe MR and episodes of uncontrollable laughter
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What is the mode of inheritance in Angelman syndrome?
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Maternal imprinting
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What inherited syndrome, characterized by severe MR, is caused by trinucleotide repeats?
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Fragile X syndrome
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At what age is an average child expected to...
walk? |
12 months
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At what age is an average child expected to...
run? |
18 months
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At what age is an average child expected to...
display stranger anxiety |
7 months
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At what age is an average child expected to...
use a pincer grasp |
9 months
an upside down pincer grasp forms the number 9 |
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At what age is an average child expected to...
hold their head up |
3 months
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At what age is an average child expected to...
sit up without support |
6 months
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At what age is an average child expected to...
say their first words |
12 months
(one word at 1 year) |
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At what age is an average child expected to...
use two-word combinations |
24 months
two words at 2 years |
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At what age is an average child expected to...
use 3 word sentences |
36 months
three words at 3 years |
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At what age is an average child expected to...
crawl |
9 months
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List the sequence of events that occur in female puberty
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1. thelarche
2. growth spurt 3. pubarche 4. menarche |
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List the sequence of events that occur in male puberty
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1. testicular enlargement
2. penile enlargement 3. growth spurt 4. pubarche |
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name this tanner stage:
breast bud development and enlargement of areolar diameter |
tanner stage II
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name this tanner stage:
increased darkening of scrotal skin |
tanner stage IV
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When should you give Hep B vaccination?
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birth (hep B at birth)
1-4 months 6-18 months |
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When should you give the polio vaccination?
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2 months
4 months 6-18 months or 4-6 yrs |
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When should you give MMR vaccination?
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>12 months
4-6 years |
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When should you give diphtheria-tetanus-pertussis vaccination?
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2 months
4 months 6 months 15-18 months or 4-6 yrs **tetanus booster every 10 yrs |
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When should you give the Haemophilus influenzae type b vaccination?
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2 months
4 months 6 months 12 months **not indicated in patients over 5 years |
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When should you give Hep B vaccination?
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birth (hep B at birth)
1-4 months 6-18 months |
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When should you give the polio vaccination?
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2 months
4 months 6-18 months or 4-6 yrs |
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When should you give MMR vaccination?
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>12 months
4-6 years |
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When should you give diphtheria-tetanus-pertussis vaccination?
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2 months
4 months 6 months 15-18 months or 4-6 yrs **tetanus booster every 10 yrs |
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When should you give the Haemophilus influenzae type b vaccination?
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2 months
4 months 6 months 12 months **not indicated in patients over 5 years |
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When should you give the pneumococcus vaccine?
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2 months
4 months 6 months 12-15 months ** not for children over 5 |
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What type of polio vaccine is recomended in the US?
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inactivated polio vaccine
**the oral vaccine is the number one cause of polio in the US |
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what age must a child be in order to receive a varicella vaccination?
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greater than 12 months
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name the vaccinations
contraindicated in immunocompromised patients |
MMR
varicella oral polio vaccine |
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name the vaccinations
that contain egg protein |
MMR
influenza |
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name the vaccinations
required in asplenic patients |
pneumococcal
meningococcal Hib vaccines (all encapsulated organisms) |
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name the vaccinations
contraindicated in patients with progressive neurologic disorders or encephalopathy within 7 days of administration |
DTaP
(the pertussis component is associated with seizures) |
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define failure to thrive
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Failure to thrive is a condition in which an infant's weight gain and growth are far below usual levels for age
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List the major risk factors of failure to thrive
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1. low socioeconimic status
2. low maternal age 3. low birth weight 4. caregiver neglect 5. maternal or fetal disease |
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What are the most common organic causes of failure to thrive?
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1. congenital heart disease
2. cystic fibrosis 3. celiac sprue 4. pyloric stenosis 5. infection 6. gastroesophageal reflux |
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What determines Apgar score?
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0,1, or 2 in each category
Appearance (blue/pale, pink trunk, all pink) Pulse (0, <100, >100) Grimace with stimulation (0, grimace, grimace and cough) Activity (limp, some, active) Respiratory effort (0, irregular, regular) |
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What is the Apgar score in this infant?
newborn has a pink trunk, HR=50, a grimace and cough when stimulated, strong muscle tone, and an irregular respiratory effort |
seven
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What is the Apgar score in this infant?
a blue newborn, HR=30, a grimace when stimulated, appears limp, and has no respiratory effort |
two
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what serologic marker is used to detect the HIV status in an infant of a HIV + mother?
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HIV DNA levels
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what three organisms are the most common causes of neonatal sepsis?
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"GEL"
Group B streptococci Escherichia coli Listeria monocytogenes |
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What is the tx regimen for a neonate with sepsis?
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Ampicillin and gentamicin or ampicillin and cefotaxime for 10-14 days
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What is the differential dx of respiratory distress in a newborn?
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respiratory distress syndrome
meconium aspiration transient tachypnea of the newborn congenital pneumonia congenital heart disease |
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what is the most common cause of respiratory failure in a premature newborn?
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respiratory distress syndrome
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what is the pathogenesis of respiratory distress syndrome?
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lack of adequate surfactant production causing alveolar collapse
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what is the typical presentation of respiratory distress syndrome?
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tachypnea, grunting, retractions, and nasal flaring in the first few hours of life
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what is the typical course of respiratory distress syndrome?
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progressive worsening and impending respiratory failure in the first 48-72 hours of life
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what are the characteristic findings on chest x-ray of respiratory distress syndrome?
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diffuse atelectasis and a ground-glass appearance
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what is the treatment of respiratory distress syndrome?
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usually requires intubation and surfactant administration
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what are the complications of chronic tx of respiratory distress syndrome?
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bronchopulmonary dysplasia, retinopathy of prematurity and barotrauma from positive pressure ventilation
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what is physiologic jaundice?
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transient, unconjugated hyperbilirubinemia caused by large bilirubin load that overwhelms a maturing liver system
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what 3 features differentiate physiologic jaundice from pathologic jaundice?
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1. hyperbilirubinemia in the first 24 hrs of life
2. prolonged jaundice 3. conjugated hyperbilirubinemia |
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Name the fatal complication of neonatal hyperbilirubinemia
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kernicterus (bilirubin staining of the basal ganglia, pons, and cerebellum)
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name the 2 therapies available for severe jaundice
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1. phototherapy
2. exchange transfusion |
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what is the pathognomonic radiographic finding in patients with necrotizing enterocolitis?
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pneumatosis intestinalis (air in the bowel wall)
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name the congenital anomaly:
neonate with inability to feed, excessive salivation, and recurrent aspiration pneumonia with a polyhydramniotic mother |
tracheoesophageal fistula
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name the congenital anomaly:
neonate with bilious emesis and a "double-bubble" sign on abdominal radiograph |
duodenal atresia
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name the congenital anomaly:
neonate born with abdominal viscera herniating through the umbilicus, contained in a sac |
omphalocele (gastroschisis contains no sac)
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Name the 5 congenitally acquired cyanotic heart lesions
think 1,2,3,4,5 |
1. truncus arteriosus (one arterial vessel overrides the ventricles)
2. transposition of the great vessels (two arteries are switched) 3. tricuspid atresia 4. tetralogy of fallot 5. total anomalous pulmonary venous return (five words) |
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name the cyanotic heart lesion:
most common cyanotic lesion presenting in the first 2 weeks of life |
transposition of the great vessels
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name the cyanotic heart lesion:
"boot-shaped heart" and decreased pulmonary vascular markings on CXR |
tetralogy of Fallot
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name the cyanotic heart lesion:
cardiomegaly and an "egg-shaped silhouette" on CXR |
transposition of the great vessels
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name the cyanotic heart lesion:
treatment consists of arterial switch performed in the first 2 weeks of life |
transposition of the great vessels (left ventricle will decompensate if procedure is delayed longer than 2 weeks)
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name the cyanotic heart lesion:
cardiac defect wherein pulmonary venous blood is directed to the right atrium |
total anomalous pulmonary venous return
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name the cyanotic heart lesion:
increased right ventricular outflow obstruction that causes cyanosis by increasing right to left shunting |
tetralogy of Fallot (tet spells)
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name the cyanotic heart lesion:
What physiologic, musical murmur is often present in young children? |
Still's murmur
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Name the 4 defects in tetralogy of Fallot
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"PROVe"
Pulmonic stenosis Right ventricular hypertrophy Overriding aorta Ventricular septal defect |
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What congenital heart lesion is defined as tricuspid valve displacement into the right ventricle?
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Ebstein anomaly
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Which maternally ingested drug is associated with Ebstein anomaly?
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Lithium
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Name three congenital acyanotic heart lesions
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1. VSD
2. Atrial Septal Defect 3. Patent ductus arteriosus "all with the letter D" |
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What is the most common congenital heart defect?
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ventricular septal defect
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What is the feared complication of a large, untreated VSD?
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Eisenmenger syndrome
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What results from a deficiency of the endocardial cushion?
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atrioventricular (AV) canal defect--ostium primum ASD and inlet VSD
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what congenital infection is associated with a PDA?
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Rubell-A = PDA
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what is the mode of inheritance in hypertrophic cardiomyopathy?
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autosomal dominant
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what is the clinical triad of hypertrophic cardiomyopathy?
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chest pain, dyspnea on exertion, and syncope (common cause of sudden death in athletes)
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what are the most common causes of sinus tachycardia?
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fever, dehydration, exercise and anemia
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Name the key ECG manifestations of Wolff-Parkinson-White syndrome
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delta wave (caused by preexcitation of the ventricle via the bypass tract)
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Which antiarrhythmic drug is contraindicated in Wolff-Parkinson-White syndrome?
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digoxin (by slowing the AV node, a bypass tract can repolarize and potentially create an atrial tachyarrhythmia) use a beta-blocker instead
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What common disease is characterized by reversible airway obstruction with accompanying bronchial hypersensitivity?
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asthma
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What disease is caued by a defect in the chloride channel on epithelial cells?
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cystic fibrosis
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Name the mode of inheritance and the chromosome responsible for cystic fibrosis.
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autosomal reessive on chromosome 7
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What gastrointestinal manifestation in the neonate is pathognomonic for cystic fibrosis?
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meconium ileus (intestinal obstruction following inspissation of meconium)
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What is the most common manifestation of cystic fibrosis in infants and children?
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failure to thrive
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What is the most common bacterial cause of pneumonia in children?
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streptococcus pneumoniae
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Name the most common clinical manifestations of cystic fibrosis in the respiratory system?
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1. nasal polyps
2. sinusitis 3. bacterial pneumonia 4. digital clubbing 5. cough 6. hemoptysis |
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Name the most common clinical manifestations of cystic fibrosis in the GI system?
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pancreatic insufficiency (causing malabsorption, diarrhea, and failure to thrive), diabetes, rectal prolapse, and meconium ileus
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Name the most common clinical manifestations of cystic fibrosis in the heptobiliary system?
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neonatal jaundice, portal hypertension, and cirrhosis
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Name the most common clinical manifestations of cystic fibrosis in the reproductive system?
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impaired fertility in males
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Name the diagnostic test of choice in cystic fibrosis
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sweat chloride test (levels greater than 60 mEq/L)
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What is the recommended treatment for cystic fibrosis?
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DNAse (Pulmozyme), pancreatic enzymes, and vitamins
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Name the most common types of group A streptococcal infections
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peritonsillar abscess, retropharyngeal abscess, rheumatic fever, poststreptococcal glomerulonephritis
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which complication of group A streptococcal infection is not avoided with antibiotic treatment?
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poststreptococcal glomerulonephritis
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Name the four clinical manifestations of poststreptococcal glomerulonephritis
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1. hematuria
2. oliguria 3. hypertension 4. edema |
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Name the viral exanthem
cough, coryza, conjunctivitis |
measles (rubeola)
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Name the viral exanthem
fever with a vesicular rash at different stages |
varicella (chickenpox)
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Name the viral exanthem
maculopapular rash, febrile seizures, and HHV-6 infection |
Roseola infantum
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Name the viral exanthem
"slapped cheek" appearance with parvovirus B19 infection |
erythema infectiosum (5th disease)
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Name the viral exanthem
painful ulcers on tongue and oral mucosa and a maculopapular rash on the distal limbs and buttocks |
Hand, foot, and mouth (...and butt) disease
coxsackievirus |
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What is the differential dx for upper airway obstruction?
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Foreign body aspiration, croup, epiglottitis, retropharyngeal abscess, bacterial tracheitis, angioedema
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croup or epiglottitis?
most commonly caused by parainfluenza virus infection |
croup
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croup or epiglottitis?
pressents with high fever, "sniffing dog" position, toxic appearance, and drooling |
epiglottitis
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croup or epiglottitis?
very rare due to Hib vaccine |
epiglottitis
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croup or epiglottitis?
responds best to racemic epinephrine |
croup
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croup or epiglottitis?
frequently requires emergent endotracheal intubation |
epiglottitis
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croup or epiglottitis?
"steeple sign" on anteroposterior (AP) neck films |
croup (think group of people going to the steeple)
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croup or epiglottitis?
presents with inspiratory stridor and a "barky cough" |
croup
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what are the 3 most common organisms that cause otitis media?
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S. pneumonia
nontypeable H. influenza Moraxella catarrhalis |
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What does the otologic examination reveal in otitis media?
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bulging tympanic membrane loss of TM light reflex, decreased mobility of the TM on pneumatic otoscopy
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what is the typical tx for otitis media?
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high does amoxicillin
80-90 mg/kg/day for 10 days |
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what pathogen causes most cases of bronchiolitis?
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respiratory syncytial virus
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what is the recommended tx for a neonate with meningitis?
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ampicillin and gentamicin or ampicillin and cefotaxime (older children = vancomycin and ceftriaxone)
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name the GI disease:
most common indication for surgical intervention |
appendicitis
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name the GI disease:
most common cause of bowel obstruction in children less than 2 years of age |
intussusception
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name the GI disease:
characterized by projectile, nonbilious vomiting in first-born males less than 2 months of age |
pyloric stenosis
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name the GI disease:
air-enema is diagnostic and therapeutic |
intussusception
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name the GI disease:
physical examination reveals an olive-shaped, mobile, nontender mass |
pyloric stenosis
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name the GI disease:
manifests as crampy, abdominal pain with emesis and bloody, mucous in stool (currant jelly) stool |
intussusception
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name the GI disease:
presents as painless, rectal bleeding |
meckel's diverticulum
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name the GI disease:
failure of ganglionic cell migration |
Hirschsprung's disease
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name the GI disease:
arises from the "lead points" and is described as a "sausage-like mass" on examination |
intussusception
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name the GI disease:
diagnosis requires a technetium pertechnetate scan that detects ectopic gastric mucosa |
meckel's diverticulum
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name the GI disease:
diagnosis requires ultrasound and tx is by surgical pylorotomy |
pyloric stenosis
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name the GI disease:
presents as bilious emesis in a child <1 month of age; diagnosed by upper GI series |
malrotation
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name the GI disease:
risk factors include Meckel's diverticulum, intestinal lymphoma, Henoch-Schonlein purpura, celiac disease, cystic fibrosis, and infection |
intussusception (all can act as potential LEAD points)
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describe the major characteristics of meckel's diverticulum
|
rule of 2's
males are affected two times as often as females 2 feet proximal to ileocecal valve 2 types of ectopic mucosa (gastric or pancreatic) 2% of population 2 years of age |
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what is the most frequent clinical sign of vesicoureteral reflux?
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recurrent urinary tract infections
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what is the dx test of choice in vesicoureteral reflux?
|
voiding cystourethrogram
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name the most common penile congenital anomaly
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hypospadias
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what are the two major complications of cryptorchidism?
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impaired sperm production and increased risk of malignancy
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name the 4 characteristics of nephrotic syndrome
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proteinuria
hypoalbuminemia hyperlipidermia edema |
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what is the most common cause of nephrotic syndrome in children and what is the treatment?
|
minimal change disease
tx: steroids |
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what is the hallmark of glomerulonephritis?
|
hematuria
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Name the glomerulonephritis:
sudden onset of hematuria 2 weeks after streptococcal pharyngitis |
actue PSGN
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Name the glomerulonephritis:
hematuria with an insidious progression to renal failure and encephalopathy |
rapidly progressive glomerulonephritis
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Name the glomerulonephritis:
palpable purpura on the lower limbs and buttocks followed by abdominal pain and hematuria |
henoch-schonlein purpura
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Name the glomerulonephritis:
nephritic clinical picture accompanied by sensorineural hearing loss |
Alport's syndrome
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Name the glomerulonephritis:
elevated anti-DNAse and low complement C3 levels |
acute PSGN
|
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what disease results from a lack of insulin production by beta-cells in the pancreas?
|
insulin-dependent diabetes mellitus (type 1)
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what is the typical presentation of type 1 diabetes?
|
polyuria, polydypsia, fatigue, and abdominal pain
|
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what 3 screening tests should be performed annually in the pediatric patient with type 1 diabetes?
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urine screening for microalbuminemia
ophthalmologic examination for retinopathy lipid profile for hyperlipidemia |
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what are the key features of diabetic ketoacidosis?
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hyperglycemia, ketoacidosis, dehydration, and lethargy
|
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what are the general tx goals for diabetic ketoacidosis?
|
fluid resuscitation
insulin tx (until DKA resolves) electrolyte management |
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what is the most feared complication in the tx DKA?
|
cerebral edema (caused by rapid changes in serum osmotic pressure)
|
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|
constitutional delay or familial short stature?
normal growth velocity at or below the 5th percentile |
constitutional delay
|
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constitutional delay or familial short stature?
growth curves fall below the fifth percentile with abnormal growth velocity |
familial short stature
|
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constitutional delay or familial short stature?
delay in bone age |
constitutional delay
|
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constitutional delay or familial short stature?
puberty is typically delayed |
constitutional delay
|
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constitutional delay or familial short stature?
normal bone age |
familial short stature
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list the 6 most common pathologic causes of short stature
|
1. growth hormone deficiency
2. primary hypothyroidism 3. cushing's disease 4. chronic systemic disease 5. psychosocial deprivation 6. turner's syndrome |
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what congenital hormonal deficiency can cause severe MR?
|
congenital hypothyroidism
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what is the most common enzyme deficiency in congential adrenal hyperplasia?
|
21-hydroxylase deficiency
|
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what are the clinical manifestations of 21-hydroxylase deficiency?
|
ambiguous genitalia in females, hyponatremia and hyperkalemia (from lack of aldosterone) and hypoglycemia (from insufficient cortisol)
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The elevation of what hormone is diagnostic for 21-hydroxylase deficiency?
|
17-hydroxyprogesterone
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what hormonal tx is used to treat 21-hydroxylase deficiency?
|
cortisol (for suppression of androgen production) and mineralcorticoids (for electrolyte balance)
|
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Name the cause of anemia:
most common cause of anemia in the pediatric population |
iron deficiency anemia
|
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Name the cause of anemia:
patients present with bone/chest pain, dactylitis, priapism, or strokes |
sickle cell disease
|
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Name the cause of anemia:
inherited hemolytic anemia caused by malformation or malfunction og globin subunits of the hemoglobin molecule |
thalassemia
|
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Name the cause of anemia:
tx of actue symptoms consists of oxygen, fluids, analgesia, antibiotics, and exchange transfusion |
sickle cell disease
|
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Name the cause of anemia:
caused by exclusive feeding with cow's milk without mineral supplementation |
iron deficiency anemia
**iron in breast milk is more bioavailable |
|
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Name the cause of anemia:
typically presents at 4 months of age as hemoglobin F levels being to decline |
sickle cell disease
|
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Name the cause of anemia:
x-linked recessive dx that presents during oxidative stress caused by fava beans or drug exposure (dapsone, sulfonamides, and antimalarials) |
glucose-6-phosphate dehydrogenase deficiency
|
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Name the cause of anemia:
patients are at greatest risk for infection and sepsis from H. influenza and S. pneumoniae |
sickle cell disease (spleen may be compromised due to autoinfarction)
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name the complication of sickle cell disease:
caused by repeated infarction of lung tissue |
acute chest syndrome
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name the complication of sickle cell disease:
painful swelling of hands and feet |
dactylitis
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name the complication of sickle cell disease:
potentially fatal complication typically induced by parvovirus B19 infection |
aplastic crisis (must check reticulocyte count in sickle patients)
|
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name the complication of sickle cell disease:
complication that causes pain, priapism, gallbladder disease, chronic renal failure, splenic infarction and avascular necrosis of the femoral head |
vasoocclusive crisis
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name the complication of sickle cell disease:
sickle cells cause microvascular obstruction and lead to fibrosis of the spleen |
autoinfarction (increased susceptibility of infection with encapsulated organisms)
|
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name the coagulation disorder:
x-linked recessive dx caused by a deficiency in factor VIII |
hemophilia A
|
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name the coagulation disorder:
x-linked recessive dx caused by a deficiency in factor IX |
hemophilia B
|
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name the coagulation disorder:
treated with desmopressin acetate (DDAVP) |
von Willebrand's dx and hemophilia A (DDAVP causes release of factor VIII and von Willebrand's factor from endothelial cells)
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|
name the coagulation disorder:
bleeding sites are from mucous membranes, skin, an dvagina during menstruation |
von Willebrand's dx
|
|
|
name the coagulation disorder:
bleeding causes hemarthroses and intramuscular bleeds |
hemophilia A and B
|
|
|
name the coagulation disorder:
increase in partial thromboplastin time with normal prothrombin time and platelet aggregation |
hemophilia A/B and von Willebrand's disease
|
|
|
what is the most common childhood malignancy?
|
leukemia (acute lyphocytic leukemia is the most common)
|
|
|
what type of leukemia is more common in African American males of any age?
|
AML
|
|
|
What type of leukemia is more common in white males, 3-5 years of age?
|
ALL
|
|
|
what is the typical initial presentation of a patient with leukemia?
|
lethargy, malaise, anorexia, and weight loss
|
|
|
what are the typical late presenting signs of leukemia?
|
bone pain and arthralgia
|
|
|
the cluster of petechiae, pallor, ecchymosis and fever in a patient with a history of leukemia is evidence of what pathophysiologic process?
|
bone marrow failure
|
|
|
what is the tx for leukemia?
|
prednisone, vincristine, and L-asparaginase
|
|
|
what is the most common solid tumor and the second most common malignancy in childhood?
|
central nervous system tumors
|
|
|
where do CNS tumors typically occur?
|
infratentorial (cerebellum, midbrain, brainstem) most adult CNS tumors are supratentorial
|
|
|
Name the clinical manifestations of CNS tumors
|
truncal ataxia, coordination/gain disturbances, and head tilt (due to cranial nerve palsies)
|
|
|
what are the symptoms of increased intracranial pressure?
|
headaches, vomiting, and lethargy
|
|
|
what are the signs of increased intracranial pressure?
|
papilledema, altered mental status, and Cushing's triad (hypertension, bradycardia, Cheyne-Stokes respirations-a late finding)
|
|
|
name the malignancy of primitive neural crest cells of the adrenal medulla and sympathetic ganglia
|
neuroblastoma
|
|
|
what is the most common presentation of neuroblastoma?
|
painless abdominal mass
|
|
|
what 2 diagnostic tests provide the definitive dx of neuroblastoma?
|
elevated urinary catecholamines and pathologic identification of tumor tissue
|
|
|
what congential anomalies are associated with Wilm's tumor?
|
WAGR
Wilms' tumor Aniridia ambiguous Genitalia mental Retardation |
|
|
ewing's sarcoma or osteosarcoma?
occurs on the midshaft of bones |
ewing's sarcoma (osteosarcoma at epiphysis)
|
|
|
ewing's sarcoma or osteosarcoma?
classic "sunburst appearance" on radiograph |
osteosarcoma
|
|
|
ewing's sarcoma or osteosarcoma?
malignant tumor of osteoblasts |
osteosarcoma (osteoblasts)
|
|
|
ewing's sarcoma or osteosarcoma?
undifferentiated sarcoma |
ewing's sarcoma
|
|
|
ewing's sarcoma or osteosarcoma?
increased alkaline phosphatase may be used as a dx test and as a treatment marker |
osteosarcoma
|
|
|
ewing's sarcoma or osteosarcoma?
higher probability of lung metastasis |
osteosarcoma
order cest CT to rule out pulmonary metastasis |
|
|
At what age do T-cell immunodeficiencies present and what types of infections are they characterized by?
|
1-3 months
broad range infections: fungal, bacterial, viral |
|
|
list two of the most common T-cell immunodeficiency syndromes
|
DiGeorge's syndrome and ataxia telangiectasia
|
|
|
What is the embryonal deformity in DiGeorge syndrome?
|
Agenesis of the 3rd and 4th pharyngeal pouch (responsible for the development of the thymus and parathyroid gland)
|
|
|
What are the clinical manifestations of DiGeorge syndrome?
"CATCH-22" |
Cardiac anomalies (tetralogy of Fallot, interupted aortic arch, vascular rings)
Abnormal facies Thymic hypoplasia Cleft palate 22--chromosome 22q11 microdeletion |
|
|
Name the immunodeficiency syndrome characterized by cerebellar ataxia, oculocutaneous telangiectasia, decreased T-cell function, and low antibody levels
|
ataxia telangiectasia
|
|
|
At what age do B-cell deficiency syndromes typically present?
|
6 months
maternal antibodies protect infant up to this age |
|
|
What ytpes of infections occur in B-cell deficiency syndromes?
|
Recurrent upper respiratory infections and bacteremia caused by encapsulated organisms
|
|
|
Name the 3 most common B-cell deficiency syndromes
|
x-linked agammaglobulinemia
common variable immunodeficiency selective IgA deficiency |
|
|
name the disease characterized by a total lack of antibody production
|
x-linked (Bruton's) agammaglobulinemia
|
|
|
name the disease characterized by recurrent respiratory, GI, and urinary tract infections
|
selective IgA deficiency
|
|
|
List the two most common combined B- and T-cell immunodeficiency syndromes
|
severe combined immunodeficiency disease (SCID) and Wiskott-Aldrich syndrome
|
|
|
What are the clinical manifestations of Wiskott-Aldrich syndrome?
|
"WATER"
IgM decreased (upside down W) increased IgA Thrombocytopenia Eczema Reccurent infections |
|
|
What are the clinical manifestations of phagocytic immunodeficiency syndromes?
|
poor wound healing, abscess formation, and granulomas
|
|
|
Name the two most common phagocytic syndromes
|
Chronic granulomatous disease (x-linked recessive)
Chediak-Higashi syndrome (autosomal recessive) |
|
|
What chemical process is affected in patients with chronic granulomatous?
|
oxidative burst that produces hydrogen peroxide
|
|
|
what is the defective immunologic process of Chediak-Higashi syndrome?
|
neutrophil chemotaxis (may manifest as oculocutaneous albinism)
|
|
|
what pediatric disease is characterized by multijoint pain, fatigue, rash, lymphadenopathy, and failure to thrive?
|
juvenile rheumatoid arthritis
|
|
|
name the type of juvenile rheumatoid arthritis:
5+ joints involved, symmetric, resembles adult RA, +/- rheumatoid factor |
polyarticular
|
|
|
name the type of juvenile rheumatoid arthritis:
small, pink, salmon-colored macular rash, high-spiking fevers, hepatosplenomegaly |
systemic (10-20%)
"Still's disease" |
|
|
name the type of juvenile rheumatoid arthritis:
<5 joints (usually weight-bearing) type 1 = females <4 type 2 = males >8 |
pauciarticular (50%)
|
|
|
what is the treatment for juvenile rheumatoid arthritis?
|
NSAIDs and strengthening exercises;
metrotrexate is second line |
|
|
what is the major ocular complication of pauciarticular juvenile rheumatoid arthritis?
|
visual loss due to iridocyclitis; typically ANA +
**routine eye exams! |
|
|
what are the major complications of systemic juvenile rheumatoid arthritis?
|
pulmonary, hepatic, CNS, nerve entrapment (i.e. carpal tunnel)
|
|
|
what laboratory value is significantly increased in patients with dermatomyositis?
|
serum creatinine kinase
|
|
|
name the vasculitis:
positive cytoplasmic antineutrophil cytoplasmic antibodies (c-ANCA) |
Wegener's granulomatosis
|
|
|
name the vasculitis:
palpable purpura, abdominal pain, and hematuria |
Henoch-Schonlein purpura
|
|
|
name the vasculitis:
recurrent upper and lower respiratory tract infections |
Wegener's granulomatosis
|
|
|
name the vasculitis:
treated with IV immunoglobulin and high-dose aspirin |
Kawasaki disease
|
|
|
name the vasculitis:
treated with corticosteroids and cyclophosphamide |
Wegener's granulomatosis
|
|
|
name the vasculitis:
coronary aneurysms are the msot fatal complication |
Kawasaki disease
|
|
|
What are the clinical manifestations of Kawasaki disease?
|
"My HEART"
Mucous membrane changes--fissured lips and strawberry tongue Hands and extremity changes--erythema and edema Eye changes--conjunctivitis with limbal sparing Adenitis (painful) lymphadenitis Rash Temperature (>104 for 5 days) |
|
|
what congenital neurologic disorder is diagnosed by an increased maternal serum alpha-fetoprotein level?
|
neural tube defect
|
|
|
name the perinatal supplement that can reduce the incidence of neural tube defects?
|
folic acid
|
|
|
what type of epileptic seizure frequently presents as a blank stare in children less than 10 years old?
|
absence seizure
|
|
|
name the EEG pattern that is diagnostic of absence seizures
|
three-per-second spike and wave pattern
|
|
|
what seizure, occuring in children between 2-7 months of age, manifests as extensor-flexor spasms occuring up to 100 times in a day?
|
infantile spasm
|
|
|
name the EEG pattern that is diagnostic of infantile spasms
|
hypsarrhythmia (chaotic pattern)
|
|
|
Define febrile seizure
|
nonepileptic seizure in children 6 months to 5 years of age that occurs in the setting of fever
|
|
|
what is the cause of febrile seizures
|
rapidly increasing body temperature (not the absolute temp)
|
|
|
simple or complex febrile seizure?
duration less than 15 min. |
simple
|
|
|
simple or complex febrile seizure?
more than one seizure in a 24 hour period |
complex
|
|
|
simple or complex febrile seizure?
characterized by a focal seizure |
complex (simple seizures are always generalized)
|
|
|
simple or complex febrile seizure?
treatment consists of fever reduction (antipyretics) |
simple
|
|
|
simple or complex seizure?
associated with 10% risk of epilepsy |
complex--may require anticonvulsant therapy, must perform EEG and MRI to rule out neuologic disease
|
|
|
what nonprogressive, nonhereditary movement an dposture disorder is associated with perinatal brain damage?
|
cerebral palsy
|
|
|
list the risk factors for cerebral palsy
|
1. prematurity
2. MR 3. low birth weight 4. fetal malformation 5. neonatal seizures 6. neonatal cerebral hemorrhage 7. perinatal asphyxia |
|
|
what is the most frequent presenting sign of cerebral palsy?
|
delayed motor development (often missed until child fails to meet developmental milestones)
|
|
|
what percentage of cerebral palsy patients show mental retardation?
|
about 50%
|
|
|
what is the most common form of cerebral palsy?
|
pyramidal (characterized by spasticity in all affected limbs)
|
|
|
what is the treatment of cerebral palsy?
|
benzodiazepines, dantrolene, and baclofen
**goal is to reduce spasticity |
|
|
name the findings in the exam that is suggestive of child abuse:
dermatologic exam |
ecchymoses of varying stages and pattern injuries (iron/cigarette burns, immersion burns, belt markings)
|
|
|
name the findings in the exam that is suggestive of child abuse:
ocular exam |
retinal hemorrhages (shaken baby syndrome)
|
|
|
name the findings in the exam that is suggestive of child abuse:
x-ray exam |
spiral fractures, rib fractures, metaphyseal corner fractures, fractures at different stages of healing
|
|
|
name the findings in the exam that is suggestive of child abuse:
genitourinary exam |
sexually transmitted diseases, genital trauma
|
|
|
name the findings in the exam that is suggestive of child abuse:
head CT |
subdural hematoma (shaken baby syndrome)
|
|
|
At what age does an average pediatric patient triple their birth weight?
|
1 year
|
|
|
what two criteria must be met before a baby can ride facing forward in a car seat?
|
child must be 1 year old and >20 lbs
|
|
|
what cause of anemia occurs in children that are strictly cow milk-fed?
|
iron deficiency anemia (iron in breast milk is more bioavailable)
|
|
|
what vitamin supplement must a child receive that is strictly breast-fed?
|
vitamin D
|
|
|
what organism is associated with hemolytic uremic syndrome?
|
E. coli O157:H7
|
|
|
what is the differential dx for an infant with leukocoria (lack of a red reflex)?
|
retinoblastoma, retinopathy of prematurity, and congenital cataracts
|
|
|
what 2 classic physical exam techniques can be used to identify congenital hip dislocation?
|
barlow's--posteriorsuperior hip dislocation pressure
Ortolani's (click with hip abduction) maneuvers |
|
|
what is the management of congenital hip dislocations?
|
treat early with Pavlik harness (maintains flexion and abduction)
|
|
|
name two physical exam findings that suggset a congenital hip dislocation
|
allis (unequal knee height)
trendelenburg (pelvis sags when standing on affected leg) signs |
|
|
name the most likely pathologic cause of this limp:
obeses, adolescent male with referred pain to knee |
slipped capital femoral epiphysis--displacement of the femoral head medially and posteriorly to the femoral neck
|
|
|
name the most likely pathologic cause of this limp:
painless limp in a 5 year old child caused by avascular necrosis of the femoral head |
Legg-Calve-Perthes disease
|
|
|
name the most likely pathologic cause of this limp:
12 year old with tibial tuberosity point tenderness |
Osgood-Schlatter disease
|
|
|
What type of radiographic evaluation is indicated in suspected slipped capital femoral epiphysis
|
AP and frog-leg lateral radiographs of both hips (appears as ice cream scoop falling off a cone)
|
|
|
what is the management of slipped capital femoral epiphysis?
|
closed reduction (in acute cases); ultimately requires prompt surgical pinning
**increased risk of premature degenerative joint disease |
|
|
what is the diagnosis?
newborn infant presents with tachypnea and poor feeding tolerance; physical exam: continuous machine-like murmur |
patent ductus arteriosus (PDA)
|
|
|
what is the diagnosis?
1 week-old infant is found to have low set ears, flat occiput, simian crease, small mouth, and protruding tongue; PE: holosystolic murmur |
trisomy 21 (Down's syndrome)
|
|
|
what is the diagnosis?
1 week-old infant presents for routine newborn exam PE: + hip clikc and dislocation of the hip with posterior pressure |
developmental hip dysplasia
|
|
|
what is the diagnosis?
2 y/o presents with sudden-onset dyspnea and respiratory distress PE: decreased breath sounds on the right side |
foreign body aspiration
|
|
|
what is the diagnosis?
13 y/o presents with fever, emesis, and diffuse periumbilical pain that has localized to the RLQ; PE: guarding and tenderness in RLQ, + psoas and obturator signs |
appendicitis
|
|
|
make the diagnosis:
4 month old black child presents with pallor, PE: splenomegaly and a II/VI systolic ejection murmur; w/u: Hgb electrophoresis shows Hgb S band |
sickle cell disease
|
|
|
make the diagnosis:
2 y/o who attends daycare presents with 2-day h/o of nonbloody watery diarrhea, and vomiting, PE: increased HR and dry mucous membranes |
viral gastroenteritis (most likely rotavirus)
|
|
|
make the diagnosis:
8 y/o presents with painful purpura after jumping on a trampoline; PE: palpable purpura on the legs and buttocks with mild abdominal discomfort |
Henoch-Schonlein purpura
|
|
|
make the diagnosis:
5 y/o male presents with h/o hemarthrosis and multiple ecchymoses; w/u: prolonged PTT and low factor VIII |
hemophilia A
|
|
|
make the diagnosis:
newborn with h/o trisomy 21 and polyhydramnios in utero presents with bilioius emesis; PE: abdominal distention. Abdominal xray shows "double bubble sign" |
duodenal atresia
|
|
|
make the diagnosis:
8 y/o with h/o type I DM presents with abdominal pain and n/v PE: kussmaul respirations and increased HR; arterial blood gas: metabolic acidosis; UA: ketonuria |
DKA
|
|
|
make the diagnosis:
7 y/o female presents with breast buds and monthly vaginal bleeding; PE: height nd weight >>>95%, full pubic and axillary hair, Hand xray shows advanced bone age |
precocious puberty
|
|
|
make the diagnosis:
8 y/o with h/o sickle cell disease presents with severe abdominal pain associated with n/v |
vasoocclusive pain crisis
|
|
|
make the diagnosis:
1 y/o presents with irritability plus crampy, intermittent abdominal pain with diarrhea; PE: tubular "sausage-like mass" and guaiac + stools |
intussusception
|
|
|
make the diagnosis:
5 y/o presents with recurrent upper respiratory infection and steatorrhea; PE: nasal polyps and failure to thrive; sweat chloride test > 60mEq/L |
cystic fibrosis
|
|
|
make the diagnosis:
14 y/o male presents with gynecomastia; PE: tall male with a small phallus and small testes |
Klinefelter's syndrome
|
|
|
make the diagnosis:
4 y/o presents with new-onset weight loss, polyphagia and polyuria; PE: dehydration; w/u: glucose = 400 mg/dL |
type 1 DM (newly diagnosed)
|
|
|
make the diagnosis:
13 y/o obese male presents with a painful limp; frog-leg xray shows epiphyseal displacement |
SCFE
|
|
|
make the diagnosis:
10 y/o with h/o sickle cell disease presents in respiratory distress; w/u decreased hematocrit and decreased oxygen saturation |
acute chest syndrome
|
|
|
make the diagnosis:
2 y/o pressents with painless, rectal bleeding, radionuclide scan reveals ectopic gastric mucosa proximal to the ileocecal valve |
Meckel's diverticulum
|
|
|
make the diagnosis:
2 y/o presents with ear pulling; PE: fever, TM is erythematous and bulging without a light reflex |
acute OM
|
|
|
12 y/o presents with leg pain; PE: localized swelling over distal femur; w/u: increased alkaline phosphatase; xray: lytic bone lesion with a "sunburst" appearance
|
osteosarcoma
|
|
|
make the diagnosis:
1 m/o infant with no significant medical history presents for routine checkup; PE: III/VI harsh, holosystolic murmur heard best at the left lower sternal border |
ventricular septal defect
|
|
|
make the diagnosis:
1 day old femal presents with ambiguous genitalia on newborn exam; w/u hyponatremia, hyperkalemia, hypoglycemia, and increased 17-hydroxyprogesterone |
congential adrenal hyperplasia
|
|
|
make the diagnosis:
4 y/o male with a 1 week h/o fever, pallor, headache, and bone tenderness; PE: fever, HSM, and generalized nontender lymphadenopathy; w/u peripheral blood smear reveals absolute lymphocytosis with abundant lymphoblasts |
acute lymphoblastic leukemia
|
|
|
make the diagnosis:
4 y/o presents with barky gough and rhinorrhea; PE fever, inspiratory stridor XR: steeple sign |
croup
|
|
|
make the diagnosis:
8 y/o with h/o bowel and bladder dysfunction presents for checkup PE: tuft of hair over lower back, scoliosis |
spina bifida occulta
|
|
|
make the diagnosis:
5 y/o presents with 6 day h/o high fevers, PE: conjunctivitis with limbal sparing, adenitis, "strawberry tongue" and fissured lips w/u increased platelet, decreased hematocrit |
kawasaki disease
|
|
|
make the diagnosis:
6 y/o child presents after episodes of "daydreaming" in class which described as "blank-stares" w/u: EEG reveals three-per-second spike and wave pattern |
absence seizure
|
|
|
make the diagnosis:
3 y/o presents with recurrent UTIs, vesicoureterogram reveals abnormally placed ureteral insertion into the bladder |
vesicoureteral reflux
|
|
|
make the diagnosis:
4 y/o presents with periorbital edema; PE: also reveals swelling at the ankles; w/u hyperlipidemia and 4+ proteinuria on UA |
minimal change disease
|
|
|
make the diagnosis:
8 y/o sickle cell patient with recent h/o viral prodrome presents with fatigue; PE: increased HR, increased RR, w/u reticulocyte coutn <1% |
aplastic crisis
|
|
|
make the diagnosis:
15 y/o presents with fevers and exudative pharyngitis; PE: generalized lymphadenopathy, w/u + heterophile antibody test, PBS reveals atypical lymphocytes |
mononucleosis
|
|
|
make the diagnosis:
1 day old infant with h/o prematurity (30 weeks) presents in respiratory distress; PE: retractions, nasal flaring, and cyanosis CXR: diffuse atelectasis |
respiratory distress syndrome
|
|
|
make the diagnosis:
newborn infant presents with respiratory distress and episodic bouts of cyanosis; PE: right ventricular heave and loud systolic ejection murmur CXR: boot-shaped heart |
tetralogy of fallot
|
|
|
make the diagnosis:
8 y/o who lives with 2 ppd smoker presents with persistent nighttime coughing PE: audible wheezes |
asthma
|
|
|
make the diagnosis:
15 y/o presents for evaluation of primary amenorrhea; PE: widely spaced nipples, webbed neck, and crescendo/decrescendo systolic murmur at the right upper sternal border |
Turner's (XO) syndrome
|
|
|
make the diagnosis:
newborn presents with cyanosis and respiratory distress; PE: right ventricular heave and loud single S2; CXR: cardiomegaly and an "egg-shaped silhouette" |
transposition of the great vessels
|
|
|
make the diagnosis:
1 m/o first-born male presents with projectile, nonbilious vomiting; PE: mobile, nontender, olive-shaed mass in the epigastric area |
pyloric stenosis
|
|
|
make the diagnosis:
4 y/o with h/o "falling off bike" presents with arm pain; PE: tenderness over forearm, bruises in various stages of healing, XR: spiral and metaphyseal fractures |
child abuse
|
|
|
make the diagnosis:
12 y/o presents with symptomatic episodic palpitations during exercise; w/u: ECG reveals "delta waves" |
wolff-parkinson-white syndrome
|
|
|
make the diagnosis:
13 y/o presents with joint pain and fevers; PE: reveals a salmon-colored rash and lymphadenopathy w/u: increased WBC and ESR |
JRA
|
|
|
make the diagnosis:
3 y/o presents after one generalized seizure lasting for 1 min. PE: fever |
simple febrile seizure
|
|
|
make the diagnosis:
2 week old presents with bilious emesis; upper GI series: an abnoramlly placed cecum and ligament of Treitz |
malrotation
|
|
|
make the diagnosis:
6 m/o presents in December with cough, rhinorrhea, and fevers; CXR: diffuse atelectasis; nasopharyngeal aspirate reveals RSV antigen + |
bronchiolitis
|
|
|
make the diagnosis:
15 y/o athlete experiences sudden cardiac death during a basketball game; autopsy reveals a muscular intraventricular septum and significant left ventricular hypertrophy (LVH) |
hypertrophic obstructive cardiomyopathy
|
|
|
make the diagnosis:
8 y/o presents with fever, photophobia, stiff neck, and headache; PE: + Kernig's and Brudzinski's signs; LP: normal glucose, mononuclear WBCs and no organisms on Gram-stain |
viral meningitis
|
