Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency
Shubhadeep Das1, Swarnali Joardar, Rita Chatterjee
1Department of Pediatrics, Medical College and Hospital, Kolkata, West Bengal, India. shubhadeepnrsdoc@gmail.com
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.
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