A Case of Adult-onset Metachromatic Leukodystrophy with Normal Nerve Conduction Studies

J Korean Neurol Assoc > Volume 24(3); 2006 > Article

Journal of the Korean Neurological Association 2006;24(3): 286-289.

신경전도속도가 정상이었던 성인형 이염색백색질장애 1예

문지수, 이지현 김민정 김종국 김광수 유봉구

고신대학교 의과대학 신경과학교실

A Case of Adult-onset Metachromatic Leukodystrophy with Normal Nerve Conduction Studies

Ji-Soo Moon,

Department of Neurology, Kosin University College of Medicine, Busan, Korea

Abstract

Adult-onset metachromatic leukodystrophy (MLD) is very rare with a combination of cognitive and behavioral symptoms and peripheral polyneuropathy. A 47-year-old man was admitted due to memory impairment, gait disturbance, dysarthria and personality changes for a period of 3 years. The arylsulfatase A level in his leukocytes was decreased. A brain MRI showed bilateral symmetrical demyelination but nerve conduction velocities (NCV) were normal. We report a very rare case of adult-onset MLD with normal NCV.KeyWords:Metachromatic leukodystrophy, Peripheral polyneuropathy, Nerve conduction velocities