Mahjneh I, Saarinen A, Siivola J
Department of Neurology, University of Oulu, Finland.
Acta Neurol Scand. 2001 Dec;104(6):377-9. doi: 10.1034/j.1600-0404.2001.00078.x.
The existence of familial carpal tunnel syndrome (FCTS) as a separate autonomic entity has been discussed during the last few years. In order to contribute with more data to the literature, we report here the results of clinical. electrophysiological, pathological and radiological studies performed in 5 patients belonging to the same Finnish pedigree. The disease appeared usually before the second decade with numbness and pain on the I--III digits. In most patients symptoms were unilateral but within 2 years they became bilateral. In all patients typical electrophysiological features of median nerve entrapment have been recorded. X-rays of the wrist showed narrow carpal tunnel in all patients. In all patients the possibility of having HNPP as well as familial amyloidosis has been excluded by molecular genetic and pathological studies. All patients underwent surgery and at postoperative stage symptoms were relieved or completely disappeared. Our study supports the theory that FCTS exists as a separate autonomic entity, therefore it is important in front of a sporadic case to investigate the family occurrence of CTS.
在过去几年中,家族性腕管综合征(FCTS)作为一个独立的自主疾病实体的存在一直备受讨论。为了向文献提供更多数据,我们在此报告对来自同一个芬兰家系的5名患者进行的临床、电生理、病理和放射学研究结果。该病通常在第二个十年之前出现,表现为示指至中指麻木和疼痛。大多数患者症状为单侧,但在2年内会发展为双侧。所有患者均记录到正中神经卡压的典型电生理特征。腕部X线显示所有患者腕管狭窄。通过分子遗传学和病理学研究排除了所有患者患遗传性压力易感性周围神经病(HNPP)以及家族性淀粉样变性的可能性。所有患者均接受了手术,术后症状得到缓解或完全消失。我们的研究支持FCTS作为一个独立的自主疾病实体存在的理论,因此,在面对散发性病例时,调查腕管综合征的家族发病情况很重要。