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

Abstract

Mitochondrial encephalopathies are a group of diseases that have as their pathogenic basis an alteration of the mitochondrial DNA (mtDNA). The MELAS phenotype (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) has been related to mutation A3243G in approximately 80% of the cases reported. MERRF (epilepsy myoclonus with ragged red fibers) has been related to mutation A8344G and A8566G of tRNA Lys. We report the case of a 7 months-old female with early clinical signs of encephalopathy associated to the A3243G mutation. Laboratory tests showed lactic acidosis and the EEG pattern was compatible with an encephalopathic process. The infant was treated with ACTH during one month, with clinical and electroencephalographic improvements. Currently, she is receiving treatment with B-vitamins, L-Carnitine and urinary alkalizing agents. It is concluded that an analysis of mtDNA must be made in infants who present convulsions, delay in their psychomotor development, lactic acidosis and an EEG pattern compatible with an encephalopathy, to rule out a mitochondrial disease.

• Authors: José Guevara-Campos, Lucía Gonzalez-Guevara, Yulimar Parada, José Urbáez-Cano
• Journal: Investigacion clinica (Invest Clin) Vol. 48 Issue 2 Pg. 243-8 (Jun 2007) ISSN: 0535-5133 [Print] Venezuela
• Vernacular Title: Encefalopatía infantil asociada con la mutación A3243G MELAS.
• PMID: 17598646 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Female
• Humans
• Infant
• MELAS Syndrome (diagnosis, genetics)
• Mutation