An 8-year-old girl presents with a 2-year history of progressive dysphagia to both solids and liquids, regurgitation of undigested food, and a chronic cough. A chest radiograph shows a dilated esophagus with an air-fluid level. A barium esophagogram is performed to evaluate for a motor disorder. What is the classic radiographic finding that would support a diagnosis of achalasia?
A full-term newborn male is noted to have no visible anal opening on his initial examination. His perineum appears flat, he has well-formed buttocks, and after 24 hours, meconium is observed being passed via the urethra. Which of the following represents the most likely diagnosis and appropriate initial management step?
A 1-year-old child is diagnosed with very early onset inflammatory bowel disease (VEO-IBD). The presentation is severe, with extensive colitis and perianal fistulae. Genetic testing identifies a pathogenic variant in the IL10RA gene. What is the most targeted and potentially curative therapy for this specific monogenic disorder?
A 2-week-old infant, born at term to healthy, non-consanguineous parents, presents with severe and persistent unconjugated hyperbilirubinemia with a peak level of 28 mg/dL. There is no evidence of hemolysis. The infant has required multiple exchange transfusions and continuous phototherapy. A therapeutic trial of phenobarbital for one week results in no decrease in serum bilirubin levels. What is the most likely diagnosis?
A 9-year-old child presents with protein-losing enteropathy, hypoalbuminemia, and peripheral eosinophilia. Endoscopy reveals thickened gastric folds and nodules. Biopsies confirm eosinophilic gastroenteritis. Which therapy is often effective for acute exacerbations?
You are seeing a 4-year-old child who underwent surgical repair of a complete cleft palate at 11 months of age. His parents are concerned about his speech, noting that it sounds “nasally” and is difficult to understand, particularly when he tries to say words with “p,” “b,” and “s” sounds. What is the most likely cause of this specific speech disturbance?
A 14-year-old girl presents with a 12-hour history of severe, steady epigastric pain that radiates to her back, accompanied by persistent vomiting. Her serum amylase is four times the upper limit of normal, and her serum lipase is eight times the upper limit of normal. Based on these findings, what is the next step to establish the most likely diagnosis?
A female neonate is born with a massively distended, non-obstructed urinary bladder, a microcolon on contrast enema, and absent intestinal peristalsis. This constellation of findings is most characteristic of which syndrome?
A 15-year-old female is diagnosed with Peutz-Jeghers syndrome after presenting with recurrent episodes of small bowel intussusception. She has the characteristic dark macular pigmented lesions around her lips and on her oral mucosa. In addition to regular gastrointestinal surveillance for polyps, for which of the following non-gastrointestinal issues should this patient be specifically monitored during childhood and adolescence?
A 15-month-old presents with a 6-month history of chronic diarrhea, abdominal distension, and failure to thrive after the introduction of cereals. Initial serologic testing for celiac disease is ordered. Which combination of initial tests is most appropriate to screen for celiac disease in this patient?
