A Case of Charcot-Marie-Tooth 1A Showing
Atypical Clinical and Pathological Features

J Korean Neurol Assoc > Volume 18(4); 2000 > Article

Journal of the Korean Neurological Association 2000;18(4): 494-498.

비전형적인 임상양상과 병리학적 소견을 보인 Charcot-Marie-Tooth 1 A형 1예

한동균, 조필자 고임석 권희경 김승민*선우일남*이광수

국립의료원 신경과,연세대학교 의과대학 신경과학교실*,국립보건원 유전질환과

A Case of Charcot-Marie-Tooth 1A Showing Atypical Clinical and Pathological Features

Dong Gyun Han, M.D., Phil Za Cho, M.D., Im Seok Koh, M.D., Hee Kyung Kwon, M.D. Seung Min Kim, M.D.* , Il Nam Sunwoo, M.D.*, Kwang Soo Lee, M.D.

Department of Neurology, National Medical Center Department of Neurology, Yonsei University College of Medicine* National Institute of Health, Lab. Of Genetic Disease†

Abstract

A 7 year-old girl presented with generalized muscle weakness and delayed motor development. She was able to stand up at 15 months and began to walk at 4 years of age. A nerve conduction study showed severe demyelinating neuropa-thy .There was no family history of peripheral neuropathy, and her parents and younger brother were clinically and electrophysiologically normal. A sural nerve biopsy showed moderate loss of myelinated fibers with onion-bulb forma-tions. Many teased nerve fibers revealed typical tomaculous changes. However the molecular genetic study of the patient confirms the duplication of 17p11.2-p22 on a polymerase chain reaction using D17S261 as a primer but not in her parents. J Korean Neurol Assoc 18(4):494~498, 2000 Key Words : Charcot-Marie-Tooth disease, Tomacula, Genotype, Phenotype