A 4-week-old infant with suspected Hirschsprung disease undergoes an unprepared contrast enema. Which finding on this study would be most suggestive of the diagnosis?
An 8-year-old girl is being evaluated for chronic cholestatic liver disease. Her clinical features include a prominent forehead, deep-set eyes, a pointed chin, and a heart murmur consistent with peripheral pulmonary stenosis. A liver biopsy shows a paucity of intrahepatic bile ducts. Which additional finding would be most consistent with her suspected diagnosis?
A term newborn develops bilious vomiting and abdominal distention within 24 hours of birth. A contrast enema reveals a microcolon. During surgery, multiple, separate segments of atretic bowel are found, resembling a string of sausages (Type IV atresia). Genetic screening is warranted in this case for pathogenic variants in which gene, which may also be associated with a severe immunodeficiency?
A 9-month-old infant presents with acute liver injury of 3 weeks duration. Laboratory results show an INR of 2.2 that is not corrected by vitamin K administration. The infant is irritable and feeding poorly but does not have clear signs of clinical encephalopathy. Based on the accepted pediatric definition, which statement is most accurate regarding the diagnosis of acute liver failure (ALF)?
A 4-month-old infant is brought in for recurrent episodes of crying and fussiness for the past month. The episodes occur daily, mostly in the evenings, for about 3 hours. The infant is otherwise healthy, growing well along his curve, and the physical exam is normal. What is the most appropriate management for this infant’s condition?
A 13-year-old with newly diagnosed Crohn disease is found to have extensive inflammation of the terminal ileum. If this disease progresses and requires surgical resection of the affected segment, the patient is at increased risk for developing which of the following complications due to malabsorption?
A 9-year-old boy develops a pancreatic pseudocyst after an episode of acute pancreatitis caused by blunt abdominal trauma. A follow-up ultrasound four weeks after the initial injury shows a 5 cm, well-circumscribed, simple fluid collection in the lesser sac. The boy is asymptomatic, tolerating a regular diet, and has returned to school. What is the most appropriate next step in management?
A couple is expecting their first child, a boy. The mother had surgically-corrected hypertrophic pyloric stenosis as an infant. What is the approximate risk that her son will also develop pyloric stenosis?
A 4-year-old child has a diagnosis of Alpers-Huttenlocher syndrome, confirmed by the identification of a pathogenic variant in the POLG gene. He has refractory seizures and psychomotor regression. After his neurologist starts a new antiepileptic drug, he develops fulminant hepatic failure two months later. Which medication is most likely responsible for precipitating liver failure in this patient?
A 2-year-old boy presents with a 6-week history of passing 4-5 large, unformed stools daily. He is painless, active, and his growth is tracking along the 75th percentile. The mother notes undigested food particles in his stool and reports he drinks a lot of apple juice throughout the day. What is the most likely diagnosis?
