肌阵挛性小脑协调不能:13例报告及6例文献复习

Dyssynergia cerebellaris myoclonica: 13 reports and 6 literatures to review

目的:通过病例分析及文献资料复习对肌阵挛、癫痫及小脑性共济失调为核心症状的肌阵挛性小脑协调不能(即RamsayHunt综合征)进行探讨,以提高临床医师对其的认识。方法:对19例RamsayHunt综合征分别进行临床症状学、家系、电生理、影像及病理研究。结果:19例患者中男13例,女6例,年龄13～40岁,初发病年龄7～29岁,多数为散发病例,4例有家族史,家族中男女均有发病,呈常染色体隐性遗传。脑电图为全导爆发的棘慢波、尖慢波,多棘慢综合波,以额后、中央、顶为主,影像检查部分病例显示小脑、脑干萎缩,病理检查2例在神经细胞内找到Lafora小体,1例肌肉活检有线粒体异常。结论:RamsayHunt综合征是一组临床症状综合征,可以是原发性,也可为继发性,小脑齿状核的慢性病损可能是肌阵挛与小脑性共济失调解剖学基础。

AIM:To study the dyssynergia cerebellaris myoclonica(Ramsay Hunt) with myoclonus, epilepsia and cerebellar ataxia as major symptoms according to the analysis of cases and the review of literatures, in order to improve the cognition of clinicians on Ramsay Hunt. METHODS: Totally 19 patients with Ramsay Hunt were investigated in clinical semiology, ancestry, electrophysiology, screenage and pathology. RESULTS: Among the 19 patients, 13 cases were male and 6 cases were female. Their ages were from 13 to 40 years and the ages for the first time of onset were from 7 to 29 years. Many of them were onset in different times. Four cases had family history; both male and female in the family were onset and had autosomal recessive inheritance. Comprehensive outbreak spike and wave complex, sharp and wave complex and multiple spike and slow wave complex indicated in electroenciphalogram that the main parts were post frontal lobe, central part and, parietal lobe.Cerebellum and brain stem were atrophied in screenage. The Lafora corpuscles were found in nerve cells of 2 cases checked by pathology. The unusual mitochondria were found in the muscular biopsy. CONCLUSION: Ramsay Hunt is a kind of syndrome with a group of clinical symptoms. It can be the primary disease, and also can be the secondary disease. The chronic injury in cerebellar dentate nucleus may be the anatomical foundation of myoclonus and cerebellar ataxia.