Kawai M, Yamamoto K, Takase Y, Fukusako T, Morimatsu M
Department of Neurology, Yamaguchi University School of Medicine.
Rinsho Shinkeigaku. 1991 Sep;31(9):1021-4.
A 22-year-old woman with progressive myoclonus epilepsy associated with the first and second branchial syndrome is described. Clinical features included generalized convulsive seizure, myoclonus, cerebellar ataxia and intellectual deterioration with micrognathia and malformation of auricles. She was initially suspected of mitochondrial encephalomyopathy, but the analysis of muscle biopsy and mitochondrial enzyme activities was negative. Her micrognathia and malformation of auricles were diagnosed as the first and second branchial syndrome. The case of progressive myoclonus epilepsy associated with this syndrome has never been reported, and the relationship between them remains unknown.
本文描述了一名22岁患有进行性肌阵挛癫痫并伴有第一、二鳃弓综合征的女性患者。临床特征包括全身性惊厥发作、肌阵挛、小脑共济失调以及智力衰退，并伴有小颌畸形和耳廓畸形。她最初被怀疑患有线粒体脑肌病，但肌肉活检和线粒体酶活性分析结果均为阴性。她的小颌畸形和耳廓畸形被诊断为第一、二鳃弓综合征。此前从未有过与该综合征相关的进行性肌阵挛癫痫病例报道，二者之间的关系尚不清楚。
