title: Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency.
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.
authors.affiliation: Department of Pediatrics, Medical College and Hospital, Kolkata, West Bengal, India. shubhadeepnrsdoc@gmail.com
authors.forename: Shubhadeep
authors.initials: S
authors.lastname: Das
authors.forename: Swarnali
authors.initials: S
authors.lastname: Joardar
authors.forename: Rita
authors.initials: R
authors.lastname: Chatterjee
authors.forename: Gautam
authors.initials: G
authors.lastname: Guha
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Hashmi
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency; D000927:Anticonvulsants / Q000009:adverse effects / Q000493:pharmacokinetics / Q000627:therapeutic use; D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology; D002545:Brain Ischemia / Q000473:pathology; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D002544:Cerebral Infarction / Q000473:pathology; D002675:Child, Preschool; D015600:Glasgow Coma Scale; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008111:Liver Function Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D012121:Respiration, Artificial; D012640:Seizures / Q000188:drug therapy / Q000209:etiology; D014635:Valproic Acid / Q000009:adverse effects / Q000493:pharmacokinetics / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; C116917:acylcarnitine; D014635:Valproic Acid; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine