以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征一家系分析

A family of MERRF associated with scotosensitive seizures

目的研究1个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征(MERRF)家系的临床特点、遗传学特征。方法整理一个以光敏性癫痫为主要表现的肌阵挛性癫痫伴肌肉破碎红纤维综合征家系的临床表现、辅助检查及影像学资料,分析其临床特点和遗传特征。结果该家系呈母系遗传,共4人(包括先证者3个同辈,1个子代)出现肌阵挛表现,先证者以光敏性癫痫为主要表现,其肌肉活检可见典型的破碎红纤维(RRF),先证者的线粒体DNA提示8344位点由A突变为G。结论 MERRF家系少见,可以光敏性肌阵挛癫痫为主要表现。

Objective To explore the clinical and hereditary features of a myoclonic epilepsy with ragged -red fibers （MERRF） family with scotosensitive seizures.Methods We collected and analyzed the clinical, auxiliary examination and hereditary documents of a MERRF family with scotosensitive seizures .Results Four members of the family including three siblings and one child presented with myoclonus .Pedigree analysis suggested a maternal transmission.The proband presented with scotosensitive seizures and raggedred fibers in muscle biopsy .Mitochondrial DNA analysis of the proband showed a point mutation from A to G at the 8344th nucleotide position located in the tRNA（Lys） gene.Conclusion This family is manifested as maternal inheritance with confirmed mitochondrial DNA point mutation .