MELAS Syndrome: An Uncommon Mitochondrial Inheritance

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive neurodegenerative disorder caused by mutations in the genes in the mitochondrial DNA. In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. A 2 year old female child with global developmental delay presented with trauma to the paediatric OPD. On examination patient showed signs of microcephaly, hypotonia, reduced reflexes and abnormal vision. The child was hospitalized to evaluate reduced reflexes. Audiology evaluation reported affected receptive and expressive language. Low hemoglobin, elevated lactate: pyruvate ratio, reduced bicarbonate levels were found. Arterial blood gases analysis revealed metabolic acidosis.MRI of the brain showed acute infarction in basal ganglia and internal capsule. Based on the clinical and laboratory evaluation, patient was diagnosed as MELAS syndrome. Along with symptomatic treatment, Biotin and Coenzyme Q were supplemented to which patient responded progressively, thereby substantiating the diagnosis.