Ethylmalonic encephalopathy masquerading as malabsorption syndrome - A case report

Ethylmalonic encephalopathy (EME) is a rare autosomal recessive inherited metabolic disease characterized by developmental delay, ecchymotic patches, and acrocyanosis with chronic diarrhea. We report a first case of EME from India who primarily presented with chronic diarrhea since early infancy and developmental delay. Mutation analysis of ETHE1 showed presence of a previously reported homozygous mutation in exon 4 confirming the diagnosis. She was started on riboflavin, CoQ, carnitine, metronidazole and N-acetyl cysteine with improvement in diarrhea but neurological features continue to progress. Prenatal diagnosis was performed in the next pregnancy. Though, EME is a devastating inherited metabolic disorder with mortality usually in early infancy, here we have reported a case presented as late as at 4 years. A high index of suspicion followed by specific molecular diagnosis not only ends the diagnostic odyssey but also ensures prenatal diagnosis in the future pregnancies.