Topakian Raffi, Wimmer Sibylle, Pischinger Barbara, Pichler Robert
Department of Neurology, Klinikum Wels-Grieskirchen, Wels, Austria.
Institute of Radiology, Wagner-Jauregg Hospital, Linz, Austria.
BMJ Case Rep. 2014 Oct 17;2014:bcr2014206883. doi: 10.1136/bcr-2014-206883.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.
遗传性压力易感性周围神经病(HNPP)是一种常染色体显性疾病,与受压或轻微创伤后反复出现的单神经病相关。以坐骨神经病变作为HNPP首发表现的报道非常少见。我们报告一例21岁既往健康男性,因左腿感觉运动功能障碍入院。他既往没有短暂性肌无力或感觉丧失发作史。临床及电生理检查结果符合坐骨神经病变。脑脊液检查以及神经根、神经丛和坐骨神经的MRI检查均未提示潜在病因。当扩展电生理检查发现上肢存在多处亚临床型压迫性神经病变时,考虑为HNPP,最终经基因检测得以确诊。