Neonatology
A newborn develops jaundice at 2–3 days of life, is feeding well, and has no other symptoms. What is the most likely diagnosis?
Physiologic jaundice
What virus is the most common cause of bronchiolitis in infants?
RSV
A child presents with slapped-cheek facial rash followed by lacy rash on the body. What virus causes this illness?
Parvovirus B19 (Erythema infectiosum)
Which congenital GI anomaly presents with a “double bubble” sign on abdominal X-ray?
Duodenal atresia
Which syndrome is associated with infantile spasms, hypopigmented macules, and subependymal nodules seen on brain imaging?
Tuberous sclerosis complex
A newborn with bilious vomiting should be assumed to have what surgical emergency until proven otherwise?
Malrotation with midgut volvulus
A child with barking cough, inspiratory stridor, and hoarseness what is the most likely cause of this condition?
Parainfluenza virus
A child with fever, cough, conjunctivitis, and Koplik spots develops a descending maculopapular rash. What is the diagnosis?
measles
In biliary atresia, the definitive treatment is ?
Kasai portoenterostomy
Which syndrome has an increased risk of Wilms tumor, hepatoblastoma, and macroglossia?
Beckwith-Wiedemann syndrome
A neonate with excessive drooling, choking during feeds, and inability to pass an NG tube likely has what condition?
Esophageal atresia (± tracheoesophageal fistula)
A toddler suddenly develops coughing and choking while playing with small objects. Where is the most common location of the suspected diagnosis ?
rt main bronchus
A 4-year-old with bloody diarrhea, fever, and seizures. What is the most likely pathogen?
Shigella
Night blindness and Bitot spots are seen in deficiency of which vitamin ?
Vitamin A
A patient with Down syndrome has an increased risk of which type of leukemia?
A newborn has respiratory distress shortly after birth, and chest X-ray shows ground-glass appearance with air bronchograms. What is the diagnosis?
RDS
What is the gene that is related to the congenital disease that causes recurrent respiratory infections, failure to thrive, and pancreatic insufficiency due to abnormal chloride transport?
CFTR GENE
Which viral infection increases the risk of Reye syndrome if aspirin is administered?
Varicella
A 12-year-old with celiac disease has poor adherence to a gluten-free diet. Which serology is most useful for monitoring compliance?
Anti-tTG IgA
Peripheral pulmonary stenosis is most commonly associated with which syndrome ?
Turner syndrome
A 2-week-old infant presents with vomiting, dehydration, hyponatremia, hyperkalemia, and metabolic acidosis. What endocrine disorder should be suspected?
Congenital adrenal hyperplasia (21-hydroxylase deficiency)
A child with persistent cough, recurrent pneumonia, and situs inversus likely has what genetic condition?
primary ciliary diskynesia ( kartagener syndrome )
Which parasitic infection is commonly associated with perianal itching in children, especially at night?
Enterobius vermicularis
A 10-day-old term neonate has unconjugated bilirubin of 24 mg/dL despite intensive phototherapy. There is no hemolysis. The infant’s older sister had similar jaundice and died from kernicterus at 3 months. Phenobarbital is started, but bilirubin does not decrease. Which is the most likely diagnosis?
Crigler–Najjar type I
A newborn presents with microcephaly, cleft palate, ambiguous genitalia, syndactyly of the 2nd and 3rd toes, and failure to thrive. Labs show low cholesterol levels. What is the diagnosis?
Smith-Lemli-Opitz syndrome