학술논문
Hereditary Neuropathy with Liability to Pressure Palsies: A Report of Two Cases / 遺傳性壓迫易感性神經病變:兩病例報告
Document Type
Article
Author
林衢序 / Chu-Hsu Lin; 羅榮昇 / Long-Sun Ro; 許宏志 / Hung-Chih Hsu; 謝煒基 / Wei-Chi Hsieh; 林智容 / Chih-Jung Lin; 李建德 / Jian-Der Lee
Source
台灣復健醫學雜誌 / REHABILITATION PRACTICE AND SCIENCE. Vol. 35 Issue 1, p41-47. 7 p.
Subject
Language
英文
ISSN
1025-3009
Abstract
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder characterized by self-limited, recurrent compressive mononeuropathies at common entrapment sites precipitated by trivial injuries. This disorder typically develops in early adulthood. Electrodiagnostic studies revealed diffuse mild demyelinating neuropathies with entrapment over common entrapment sites. Nerve biopsies frequently show segmental demyelination and thickening of the myelin sheath which is mostly caused by 1.5 Mb deletion of the 17p 11.2 site containing the peripheral myelin protein 22 (PMP22) gene on the 17(superscript th) chromosome. This report describes the clinical features, electrodiagnostic studies, and genetic studies of a Taiwanese family. Among the 5 members evaluated, 1 latent and 2 symptomatic cases had generally decreased nerve conduction velocities with further focally decreased conduction velocities or conduction blocks at common entrapment sites. Genetic studies demonstrated deletion of the Charcot-Marie-Tooth type IA sequences in 17p 11.2 in all 3 patients. Our case studies suggested that diagnosis of HNPP can be based on clinical suspicion, positive family history, and electrodiagnostic tests; however final confirmation should be based on genetic study.