Abstract
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.
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Papetti, L., Garone, G., Schettini, L. et al. Severe early onset ethylmalonic encephalopathy with West syndrome. Metab Brain Dis 30, 1537–1545 (2015). https://doi.org/10.1007/s11011-015-9707-8
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DOI: https://doi.org/10.1007/s11011-015-9707-8