Department of Hand Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Nagoya J Med Sci. 2023 Feb;85(1):204-210. doi: 10.18999/nagjms.85.1.204.
Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant disease characterized by focal, recurrent, demyelinating peripheral neuropathies. It is caused by deletions of the gene encoding for peripheral myelin protein 22 (PMP22) on chromosome 17. While it may range widely, the most common clinical presentation is an acute, focal mononeuropathy with numbness or muscle weakness after trauma or compression. Diagnostic tools include electrophysiological studies, genetic tests and nerve biopsies. There is no standard surgical or pharmacological treatment. The course of the disease is usually benign, with spontaneous improvement after most episodes of peripheral nerve palsy. HNPP is best managed by early detection, preventative measures, and subsequent treatment of symptoms. According to the medical literature, operative treatment was undertaken in few cases and limited to decompression of the nerve at the classic entrapment sites of the carpal or cubital tunnels. We present a case of multiple tendon transfer (pronator teres to extensor carpi radialis brevis and flexor carpi radialis to extensor digitorum communis) with a two-year follow-up in a 24-year-old woman with HNPP who was affected by irreversible radial nerve palsy, and conclude with a review of the medical literature related to the disease.
遗传性压力易感性周围神经病（HNPP）是一种罕见的常染色体显性遗传病，其特征为局灶性、复发性、脱髓鞘性周围神经病。它是由编码周围髓鞘蛋白 22（PMP22）的基因缺失引起的，位于 17 号染色体上。虽然临床表现可能多种多样，但最常见的临床表现是急性、局灶性单神经病，在创伤或压迫后出现麻木或肌无力。诊断工具包括电生理学研究、基因测试和神经活检。目前尚无标准的手术或药物治疗方法。该病的病程通常为良性，大多数周围神经麻痹发作后可自行改善。HNPP 通过早期发现、预防措施和随后的症状治疗来进行最佳管理。根据医学文献，只有少数病例进行了手术治疗，且仅限于腕管或肘管经典卡压部位的神经减压。我们报告了一例 24 岁 HNPP 女性患者，因不可逆性桡神经麻痹，行多次肌腱转移（旋前圆肌至桡侧腕短伸肌和桡侧腕屈肌至指总伸肌），并进行了为期两年的随访。我们还对与该病相关的医学文献进行了回顾。
