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?
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