Tateno A, Morisawa K, Koya N, Fujioka Y, Ikeda K
Department of Pediatrics, Sakura Hospital, Toho University, School of Medicine, Chiba.
No To Hattatsu. 1993 Jan;25(1):81-6.
This report describes a patient with degenerative type of progressive myoclonus epilepsy (PME), who showed slowly progressive deterioration of the central nervous system; intellectual impairment, dysarthria, and involuntary movements, particularly action myoclonus and dystonia. The patient was a 19-year-old woman who had no hereditary factors. At the age of 4, she developed action myoclonus in the upper limbs bilaterally. Her condition became gradually worse, and at the age of 15, she was admitted to our hospital because of involuntary movement in the upper limbs. First physical examination revealed mild mental retardation, action myoclonus, dystonia, and delayed adolescence. As giant SEP characteristic of PME and Ramsay Hunt syndrome was found, she was tentatively diagnosed as having Ramsay Hunt syndrome without epilepsy, and delayed adolescence. Now, she is 19 years old, and unable to walk alone because of involuntary movements and paralysis. But she has not developed epilepsy. As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive myoclonic ataxia (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.
本报告描述了一名患有退行性进行性肌阵挛癫痫（PME）的患者，其表现为中枢神经系统缓慢进行性恶化；存在智力障碍、构音障碍和不自主运动，尤其是动作性肌阵挛和肌张力障碍。该患者为一名19岁女性，无遗传因素。4岁时，她双侧上肢出现动作性肌阵挛。病情逐渐加重，15岁时因上肢不自主运动入住我院。首次体格检查发现轻度智力发育迟缓、动作性肌阵挛、肌张力障碍和青春期延迟。由于发现了PME和拉姆齐·亨特综合征特有的巨大体感诱发电位（SEP），她被初步诊断为无癫痫的拉姆齐·亨特综合征以及青春期延迟。现在，她19岁，因不自主运动和瘫痪无法独自行走。但她尚未发生癫痫。由于她不符合马赛共识小组分类的进行性肌阵挛癫痫（PME）和进行性肌阵挛共济失调（PMA），她被诊断为患有非典型PME综合征。
