A Case of Charcot-Marie-Tooth Disease type 1A with Guillain-Barre Syndrome

J Korean Neurol Assoc > Volume 20(6); 2002 > Article

Journal of the Korean Neurological Association 2002;20(6): 721-724.

길랑바레증후군이 병발된 Charcot-Marie-Tooth 신경병 1 A형 1예

이봉호 , 오병철 강신광 김광국

울산대학교 의과대학 서울아산병원 신경과학교실, 진단병리학교실

A Case of Charcot-Marie-Tooth Disease type 1A with Guillain-Barre Syndrome

Bong-Ho Lee, M.D.

"Department of neurology, and pathology, Asan Medical Center, College of Medicine, University of Ulsan"

Abstract

"Charcot-Marie-Tooth disease (CMTD) is a hereditary neuropathy with slow progression, whereas Guillain-Barre syn-drome is an acute acquired neuropathy of immunopathogenesis. A 17 year-old girl with hammertoes and pes cavus developed an acute quadriparesis. The duplication of PMP-22 exons in 17p12-p11.2 was confirmed by genetic study. After Intravenous ingection of immunoglobulin, she recovered to normal activity within one month with improvement of nerve conduction study. We should be concerned with the possibility of Guillain-Barre syndrome if there is rapidly progressive exacerbation on CMTD.Key Words : Charcot-Marie-Tooth, Guillain-Barre syndrome, PMP-22 gene"