ESPE Abstracts (2019) 92 P3-213

Mitochondrial Encephalomyopathy with Acidosis and Stroke-Like Episodes in A Vietnamese Child: Clinical, Radiological and Molecular Genetic Analysis

Khoa Binh Minh Nguyen1, Thi Diem Thuy Hoang1,2, Thi Phuong Uyen Truong2

1Children's Hospital 2, Ho Chi Minh city, Vietnam. 2Pham Ngoc Thach University of Medicine, Ho Chi Minh city, Vietnam

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial multisystem disorder. The m.3243A>G pathogenic variant in the mitochondrial gene MT-TL1 is present in approximately 80% of individuals with MELAS. In this article, we report a 7-year-old girl with the classical MELAS phenotype. After the age of 1 year, she had recurrent episodes of nausea and vomiting. In this episode, she presented with focal seizures in the left side. Examination showed generalized muscle weakness and mild left-sided hemiparesis. Blood and cerebrospinal fluid lactate elevated 6.2 mmol/L (normal range 1.8-2.7) and 8.5 mmol/L (normal range 1.2-2.1), respectively. The brain magnetic resonance imaging (MRI) revealed infarct-like lesions in the right prefrontal, temporal and occipital regions. The heteroplasmic A3243G mutation was detected in the blood of the patient by using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism analysis and direct sequencing in the system of ABI 3500 Genetic Analyzer. A daily dose of 200 mg/kg/day oral arginine was given. Treatment for MELAS is primarily supportive. Patients should be followed at regular intervals to monitor progression and the appearance of new symptoms.

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