Question

Alex is a six-year-old boy who experiences fatigue, has difficulty tolerating exercise, and presents muscle weakness. He is short in stature and vomits often as a result of accumulation of lactic acid in the blood. Which of the following best describes the cause of the symptoms

Answer 1

He appears to be suffering from MELAS syndrome.

It is caused due to mitochondrial defect resulting from mutation.

MELAS syndrome affects mostly children aged between 5 to 15 years, it is a neurodegenerative disorder which consists of myopathy, encephalopathy, stroke and lactic acidosis.

The presentation of MELAS syndrome is - headache, muscle spasm, muscle weakness, fatigue, seizures, numbness, paralysis, vomiting, hearing loss, blindness etc.

Diagnosis is done on the basis of blood tests, CSF tests, Computed tomography and Magnetic resonance imaging.

There is no particular treatment for MELAS syndrome, and it is mostly supportive such as treadmill training, and dietary therapy.