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.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology