Multiprofessional Critical Care Review: Pediatric 2024 (MCCRCP24ON)-Board Questions: Blood, Nutrition, Gastrointestinal, Metabolic

Video Transcription

Video Summary

A 10-year-old girl presents to the Pediatric Critical Care Unit with a history of abdominal pain, vomiting, and progressive altered mental status over five days. On examination, she is lethargic with a Glasgow Coma Scale (GCS) of 10, and exhibits right-sided weakness. Vital signs reveal a heart rate of 154, respiratory rate of 21, and blood pressure of 109/74. Laboratory results indicate metabolic acidosis (bicarbonate of 10, anion gap of 35), elevated beta-hydroxybutyrate (2.7), and moderately elevated ammonia (67). The family reports similar symptoms three years ago without a diagnosis. After initial hydration, the suggested management strategy includes intralipid infusion and a branched-chain amino acids-free formula, pointing towards a diagnosis of maple syrup urine disease (MSUD). MSUD is characterized by a deficiency in branched-chain alpha-keto acid dehydrogenase, leading to elevated branched-chain amino acids in plasma and urine, with symptomatic episodes usually presenting early in life and characterized by distinct metabolic and clinical manifestations. Treatment for MSUD involves dietary management with leucine restriction and supplementation with isoleucine and valine, along with frequent clinical and biochemical monitoring.

Keywords

Pediatric Critical Care

abdominal pain

altered mental status

metabolic acidosis

maple syrup urine disease

branched-chain amino acids

intralipid infusion

leucine restriction

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