Seizures in Myoclonic Epilepsy with Ragged-Red Fibers
Detected by DNA Analysis : A Case Report
ORAPORN SITBURANA, M.D.*, RA WIPHAN WITOONPANICH, M.D., F.R.C.P.*,
SUCHART PHUDHICHAREONRAT, M.D., F.R.C.P.C.**, PATCHAREE LERTRIT, M.D., Ph.D.***,
RUNGNAPA SUPA VILAI, M.Sc. ***
Affiliation : * Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University,
Bangkok 10400,
** Department of Pathology, Prasart Neurological Institute, Bangkok 10400,
*** Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahido1 University, Bangkok 10700, Thailand.
AbstractA 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 tRNAIY' 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.
Keywords : Seizures, Ataxia, Myoclonic Epilepsy with Ragged-Red Fibers
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