Introduction:

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is the most common mitochondrial disease. These diseases are hereditary, multi-systemic and progressive, and lead to a predominant neurological involvement that causes disability and death, so early diagnosis and genetic counseling are of great importance for improving the prognosis of these patients.

Case presentation:

Five-year-old female patient who was taken to the pediatrics service of the hospital due to epileptic seizure, psychomotor retardation and ataxia. Although in the first medical consultation her neuroimaging studies were normal, hyperlactatemia was identified. In addition, a lactate to pyruvate ratio >20 was observed, so a mitochondrial disease was suspected.

Six months later, the patient showed progressive deterioration of her health condition. A cranial CT scan and a magnetic resonance spectroscopy allowed the identification of an ischemic lesion in the occipital lobe and increased cerebral lactate levels, respectively. In order to confirm the MELAS syndrome diagnosis, a mitochondrial DNA study was requested, in which the m.3243A>G mutation was found. Unfortunately, the patient had a rapid deterioration of her health condition, showing a regression of her acquired functions, and died four years after the onset of the clinical signs.

Conclusion:

Mitochondrial diseases diagnosis should always be considered in patients with a history of epilepsy and other neurological disorders such as ataxia and neurodevelopmental regression.

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