Publication

Abstract : A 10-month-old girl presented with global developmental delay, epileptic spasms, and easy bruisability. She was fourth-born of third-degree consanguineous parents with 3 healthy siblings. The perinatal period was uneventful. Examination revealed microcephaly, central hypotonia, acrocyanosis, mottled skin, and petechiae over extremities (figure 1). Neuroimaging revealed peculiar findings (figure 2). EEG revealed modified hypsarrhythmia (figure 3). Epileptic spasms resolved with oral prednisolone therapy (given at 3 mg/kg/d for 2 weeks followed by tapering over 6 weeks). She had elevated C4-acylcarnitines on tandem mass spectrometry (TMS) and urinary ethylmalonic acid on urine gas chromatography mass spectrometry (GCMS). The diagnosis of ethylmalonic encephalopathy (EE) was confirmed genetically (c.487C > T; p.Arg163Trp homozygous variation in ETHE1). She was initiated on N-acetyl cysteine, metronidazole, and mitochondrial cocktail but died of an acute crisis at 14 months of age.