Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy

TAVASOLI, Alireza and ROSTAMI, Parastoo and reza ASHRAFI, Mahmoud and KARIMZADEH, Parvaneh (2017) Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. Iranian Journal of Child Neurology, 11 (2). pp. 57-60.

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Abstract

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.

Item Type: Article
Subjects: East India Archive > Medical Science
Depositing User: Unnamed user with email support@eastindiaarchive.com
Date Deposited: 31 Mar 2023 07:11
Last Modified: 23 May 2024 07:31
URI: http://ebooks.keeplibrary.com/id/eprint/583

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