A 13-year-old male with a history of severe Crohn’s disease and multiple bowel resections presents with complaints of a scaly, periorificial dermatitis around his mouth and eyes, as well as significant hair loss and conjunctivitis. He has also been more withdrawn and lethargic. Which nutrient deficiency best explains this constellation of symptoms?
An 8-month-old infant is diagnosed with infantile spasms. An extensive workup for common causes is negative. An astute resident administers a trial of 100 mg of intramuscular pyridoxine, and the seizures stop within minutes, with normalization of the EEG. What is the underlying pathophysiology?
A 2-year-old child is admitted to the pediatric intensive care unit with severe acute malnutrition and septic shock. He is lethargic with cold extremities and a capillary refill of 4 seconds. After providing oxygen and a rapid intravenous bolus of 10% dextrose, what is the most appropriate next step for intravenous fluid resuscitation in this malnourished child?
A 14-year-old male with a Body Mass Index at the 99th percentile is being managed for obesity and its comorbidities. Despite 12 months of intensive lifestyle modification, his Body Mass Index continues to increase, and his type 2 diabetes is worsening. His physician is considering pharmacotherapy. Which medication works by acting as a glucagon-like peptide-1 (GLP-1) receptor agonist and is approved for weight management in adolescents aged 12 and older?
A 4-year-old boy is evaluated for early-onset severe obesity. He has an insatiable appetite and food-seeking behavior. His parents note he has red hair and very fair skin. Physical exam is otherwise normal. A deficiency in which of the following prohormones is most likely responsible for his condition?
A 4-year-old boy is hospitalized with pneumonia and found to have a Body Mass Index-for-age z-score of -2.5. He appears thin with decreased muscle mass. Over the past year, his weight has crossed two major percentile lines downward on the growth chart. Based on these findings, how would his malnutrition be classified?
A 16-year-old female with a long history of anorexia nervosa is hospitalized for severe malnutrition. During the stabilization phase of treatment, she is started on cautious refeeding. Which of the following pathophysiologic changes is the primary reason for placing her on a low-sodium rehydration solution (ReSoMal) and avoiding standard oral rehydration solutions?
An 8-year-old child with autism spectrum disorder who eats a highly selective diet consisting only of heat-treated milk, bread, and pasta is brought in for evaluation of bilateral leg pain and refusal to walk. A radiograph of the knees reveals a ground-glass appearance of the shafts, thinning of the cortex, and a thickened, irregular white line at the metaphysis. Which of the following is the most likely diagnosis?
A 2-year-old child presents with recurrent episodes of encephalopathy, ataxia, and dysphagia that are typically triggered by febrile illnesses. MRI of the brain shows bilateral lesions of the basal ganglia. The condition responds to combined treatment with high-dose biotin and thiamine. A pathogenic variant in which gene is the most likely cause of this disorder?
A 4-month-old infant, who is exclusively breastfed, is brought in for evaluation. The infant has developmental regression, poor feeding, and new-onset coarse tremors of the extremities. Laboratory workup is significant for megaloblastic anemia. Which of the following is the most likely diagnosis?