A Family of Hereditary Neuropathy with Liability to Pressure Palsy Presenting Atypical Electrophysiological Features.
- Author:
Jeeyoung OH
1
;
Sook Hui KIM
;
Jee Young KIM
;
Hee Jin KIM
;
Kee Duk PARK
Author Information
1. Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea. pkd1165@ewha.ac.kr
- Publication Type:Case Report
- Keywords:
Hereditary neuropathy with liability to pressure palsy;
Charcot-Marie-Tooth disease 1A;
Electrodiagnosis
- MeSH:
Adolescent;
Charcot-Marie-Tooth Disease;
Electrodiagnosis;
Female;
Humans;
Mothers;
Neural Conduction;
Paralysis*
- From:Journal of the Korean Neurological Association
2005;23(3):411-414
- CountryRepublic of Korea
- Language:English
-
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 far.
