Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency

Pediatr Neurol. 2011 Sep;45(3):203-5. doi: 10.1016/j.pediatrneurol.2011.04.011.

Abstract

A 3-year-old boy receiving valproate for 1.5 months presented with sudden-onset unprovoked seizures and unconsciousness. Hypoketotic hypoglycemia, hyperammonemia, and deranged liver function were detected. Elevated medium-chain urinary acylglycines and plasma acylcarnitine were detected. His serum valproate level was elevated. Valproate toxicity had been precipitated in presence of medium-chain acyl-CoA dehydrogenase deficiency. Cranial magnetic resonance imaging brain indicated unilateral basal ganglia ischemia instead of the bilateral changes expected in metabolic disease.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency
  • Anticonvulsants / adverse effects
  • Anticonvulsants / pharmacokinetics
  • Anticonvulsants / therapeutic use
  • Basal Ganglia / pathology
  • Brain / pathology
  • Brain Ischemia / pathology
  • Carnitine / analogs & derivatives
  • Carnitine / blood
  • Cerebral Infarction / pathology
  • Child, Preschool
  • Glasgow Coma Scale
  • Humans
  • Lipid Metabolism, Inborn Errors / pathology*
  • Liver Function Tests
  • Magnetic Resonance Imaging
  • Male
  • Respiration, Artificial
  • Seizures / drug therapy
  • Seizures / etiology
  • Valproic Acid / adverse effects
  • Valproic Acid / pharmacokinetics
  • Valproic Acid / therapeutic use

Substances

  • Anticonvulsants
  • acylcarnitine
  • Valproic Acid
  • Acyl-CoA Dehydrogenase
  • Carnitine

Supplementary concepts

  • Medium chain acyl CoA dehydrogenase deficiency