Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy
Iranian Journal of Child Neurology,
Vol. 11 No. 2 (2017),
29 October 2016
How to Cite This Article: Tavasoli AR, Rostami P, Ashrafi MR, Karimzadeh P. Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy. Iran J Child Neurol. Spring 2017; 11(2):57-60.
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.
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- Ethylmalonic Encephalopathy
- ETHE1 Gene Mutation
- Neurologic Manifestations
- Vascular Manifestations
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