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Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy



Tavasoli AR1 ; Rostami P2 ; Ashrafi MR1 ; Karimzadeh P3, 4
Authors

Source: Iranian Journal of Child Neurology Published:2017

Abstract

Objective Ethylmalonic encephalopathy (EE) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, and vascular lesions including petechial purpura, orthostatic acrocyanosis, and chronic hemorrhagic diarrhea. Biochemical hallmarks of the disease are persistently high level of lactate, and C4–C5-acylcarnitines in blood, markedly elevated urinary excretion of methylsuccinic and ethylmalonic (EMA) acids. Here we report two patients with EE as a 16-months-old male infant and a 2-yr-old boy referred to Pediatric Neurology Clinic in Children’s Medical Center, Tehran-Iran that in one patient genetic analysis revealed a homozygous mutation of the ETHE1 gene in favor of ethylmalonic acidemia. © 2017, Iranian Child Neurology Society. All rights reserved.
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