A 4-year-old boy is referred to genetics for developmental d…
A 4-year-old boy is referred to genetics for developmental delay, autism spectrum disorder, and multiple congenital anomalies. Physical examination reveals mild dysmorphic facial features, hypotonia, and a ventricular septal defect. There is no significant family history. The geneticist suspects an underlying chromosomal disorder but is concerned that the abnormality may be too small to be identified on a routine karyotype. Which of the following is the most appropriate first-line genetic test?
Read DetailsA 10-year-old is referred for weight gain. Review of his gro…
A 10-year-old is referred for weight gain. Review of his growth chart shows he has gained 9 kg over 18 months but his height has dropped from the 52nd to the 12th percentile over the same period. BMI is at the 97th percentile. BP is 148/90 mmHg. Examination reveals wide violaceous abdominal striae, a dorsocervical fat pad, and proximal muscle weakness (he cannot rise from a chair without using his arms). Which diagnosis best explains this constellation of findings?
Read DetailsA 10-year-old boy is admitted to the pediatric ICU after sus…
A 10-year-old boy is admitted to the pediatric ICU after sustaining multiple abdominal injuries in a motor vehicle collision. Over the past 12 hours, he has received aggressive fluid resuscitation and blood product transfusions. He is mechanically ventilated. The bedside nurse reports increasing ventilator pressures and decreasing urine output. Current findings include: HR: 145 beats/min BP: 88/50 mmHg Peak inspiratory pressures: increasing from 22 to 38 cm H₂O Urine output: 0.2 mL/kg/hr Abdomen: markedly distended and tense Serum lactate: 6.1 mmol/L Bladder pressure measurement is 24 mmHg. Which of the following is the most appropriate next step in management?
Read DetailsA 15-year-old male with no prior GI history presents with se…
A 15-year-old male with no prior GI history presents with severe epigastric pain radiating to the back, nausea, and vomiting after a large meal. Lipase is 1,240 U/L (>3× ULN). Amylase is 890 U/L. Ultrasound shows peripancreatic edema and a 4 mm common bile duct stone. He is hemodynamically stable. What is the most appropriate approach to nutrition in this patient?
Read DetailsA 16-year-old female with known Graves disease, non-adherent…
A 16-year-old female with known Graves disease, non-adherent to methimazole for 3 months, undergoes emergency appendectomy. Five hours post-operatively, she develops fever of 40.3°C, HR 162 bpm, agitation, tremors, and severe diaphoresis. BP is 178/100 mmHg. Burch-Wartofsky score is 75. Which management sequence is correct for thyroid storm?
Read DetailsA 3-year-old boy is brought to the emergency department for…
A 3-year-old boy is brought to the emergency department for vomiting, lethargy, and abdominal pain. His mother’s boyfriend reports that the child “fell off the couch” earlier that day. On examination, the child is pale and withdrawn. Vital signs are notable for: HR: 155 beats/min BP: 82/44 mmHg RR: 30 breaths/min Physical examination reveals faint bruising over the abdomen and scattered ecchymoses on the back. Abdominal palpation elicits diffuse tenderness and guarding. Laboratory studies show: Hemoglobin: 8.2 g/dL AST: 310 U/L ALT: 275 U/L Lipase: 650 U/L A CT scan of the abdomen demonstrates a pancreatic transection and small amount of free intraperitoneal fluid. Which of the following findings should most strongly increase the clinician’s suspicion for child abuse as the cause of this child’s injuries?
Read DetailsA 15-year-old sustains a gunshot wound to the right lower ab…
A 15-year-old sustains a gunshot wound to the right lower abdomen. In the trauma bay: HR 108 bpm, BP 112/68 mmHg. Abdominal exam shows peritoneal penetration on local wound exploration. There is no peritonitis on exam. CT abdomen/pelvis shows the trajectory traverses the peritoneal cavity. What is the most appropriate definitive management decision?
Read DetailsA 2-year-old male with phenylketonuria (PKU) on a low-phenyl…
A 2-year-old male with phenylketonuria (PKU) on a low-phenylalanine diet has been refusing his medical amino acid formula for 3 months. His plasma phenylalanine level is 1,920 μmol/L (therapeutic target: 120–360 μmol/L). The metabolic team discusses therapeutic options. Which agent is most appropriate to evaluate in this patient and what is its mechanism?
Read Details