Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report.

Abstract

A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. Blood was tested by molecular DNA analysis which showed A8344G mitochondrial DNA mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in Thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling.

• Authors: O Sitburana, R Witoonpanich, S Phudhichareonrat, P Lertrit, R Supavilai
• Journal: Journal of the Medical Association of Thailand = Chotmaihet thangphaet (J Med Assoc Thai) Vol. 84 Issue 7 Pg. 1051-5 (Jul 2001) ISSN: 0125-2208 [Print] Thailand
• PMID: 11759966 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA, Mitochondrial

Topics

• Adult
• DNA Mutational Analysis
• DNA, Mitochondrial (analysis)
• Diagnosis, Differential
• Female
• Humans
• MERRF Syndrome (diagnosis, genetics)