A 5-day-old male neonate develops progressive lethargy after…
A 5-day-old male neonate develops progressive lethargy after initiation of protein feeds. By day 5, he is unresponsive with irregular breathing. ABG: pH 7.51, pCO2 20 mmHg (primary respiratory alkalosis). Serum ammonia is 920 μmol/L. Liver enzymes, bilirubin, and glucose are normal. Plasma citrulline is low; urine orotic acid is markedly elevated. What is the most urgent intervention?
Read DetailsA 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?
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