A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features

J Korean Neurol Assoc > Volume 23(3); 2005 > Article

Journal of the Korean Neurological Association 2005;23(3): 411-414.

비전형적인 신경전도검사 소견을 보인 유전성압박마비편향신경병증 가족 1예

오지영, 김숙희 김지영 김희진 박기덕

이화여자대학교 의과대학 신경과학교실

A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features

Jeeyoung Oh

Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea

Abstract

We report a 15-year-old girl with hereditary neuropathy with liability to pressure palsy (HNPP), whose electrophysiological features mimicked Charcot-Marie-Tooth disease 1A. Her mother was asymptomatic, but a nerve conduction study was compatible with HNPP. Molecular analysis confirmed the deletion of chromosome 17p11.2 in both patients. Our case suggests that HNPP has more diverse electrophysiological features than reported so farKeyWords:Hereditary neuropathy with liability to pressure palsy, Charcot-Marie-Tooth disease 1A, Electrodiagnosis