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

• Main Authors: Oraporn Sitburana, Suchart Phudhichareonrat, Rungnapa Supavilai, Rawiphan Witoonpanich, Patcharee Lertrit
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/26753

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 tRNAlys 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.