[Infantile encephalopathy associated with the MELAS A3243G mutation. Case report]

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Mitochondrial encephalopathies are a class of diseases caused by mitochondrial DNA (mtDNA) mutations.
• The MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) phenotype is frequently associated with the A3243G mtDNA mutation.
• MERRF (myoclonic epilepsy with ragged red fibers) is linked to specific tRNA Lys mutations (A8344G, A8566G).

Observation:

• A 7-month-old female infant presented with early signs of encephalopathy, including convulsions, psychomotor developmental delay, and lactic acidosis.
• Electroencephalogram (EEG) findings were consistent with an encephalopathic process.
• The patient was found to have the A3243G mtDNA mutation.

Findings:

• Treatment with ACTH for one month resulted in clinical and electroencephalographic improvements.
• Current management includes B-vitamins, L-Carnitine, and urinary alkalizing agents.
• The A3243G mutation was identified as the likely cause of the infant's encephalopathy.

Implications:

• Infants presenting with unexplained convulsions, developmental delay, lactic acidosis, and abnormal EEG patterns should be evaluated for mitochondrial disease.
• Early detection of mtDNA mutations allows for targeted therapies and management strategies.
• This case highlights the importance of mtDNA analysis in the differential diagnosis of pediatric encephalopathies.