When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

Arquivos de Neuro-Psiquiatria

Paulo José Lorenzoni¹  Lineu Cesar Werneck¹  Cláudia Suemi Kamoi Kay¹  Carlos Eduardo Soares Silvado¹  Rosana Herminia Scola¹ 

关键词: MELAS;    mitochondria;    myopathy;    stroke;    encephalopathy;    genetics;    MELAS;    mitocôndria;    miopatia;    acidente vascular cerebral;    encefalopatia;    genética;   

DOI  :  10.1590/0004-282X20150154

来源: SciELO

【 摘 要 】

ABSTRACTMitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALeu(UUR) gene of the DNAmt, mainly A3243G, are responsible for more of 80% of MELAS cases. Morphological changes seen upon muscle biopsy in MELAS include a substantive proportion of ragged red fibers (RRF) and the presence of vessels with a strong reaction for succinate dehydrogenase. In this review, we discuss mainly diagnostic criterion, clinical and laboratory manifestations, brain images, histology and molecular findings as well as some differential diagnoses and current treatments.

【 授权许可】

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