Kim Se Hwa, Yang Seung Nam, Yoon Joon Shik, Park Bum Jun
Department of Physical Medicine and Rehabilitation, Korea University Guro Hospital, Seoul, Korea.
Ann Rehabil Med. 2014 Feb;38(1):109-15. doi: 10.5535/arm.2014.38.1.109. Epub 2014 Feb 25.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible.
遗传性压力易感性周围神经病(HNPP)是一种常染色体显性遗传性疾病,反复的局部压迫会影响周围神经。HNPP可通过临床症状、电诊断研究、组织病理学特征和基因分析来诊断。超声检查越来越多地用于神经肌肉疾病的诊断;然而,HNPP的超声特征尚未明确界定。我们报告了一名经基因分析确诊为HNPP的73岁女性的超声检查结果及对比电诊断数据。周围神经的横截面积在典型的神经卡压部位增大,但在非卡压部位增大并不常见。当电诊断研究怀疑HNPP和/或基因研究不匹配时,这些超声特征可能有助于HNPP的诊断。