Pelizaeus-Merzbacher Disease :Two Cases in a Family Diagnosed by ?the Clinical Features and Magnetic Resonance Imaging

J Korean Neurol Assoc > Volume 13(1); 1995 > Article

Journal of the Korean Neurological Association 1995;13(1): 115-122.

Pelizaeus-Merzbacher 병 - 임상 양상과 뇌 자기공명영상에 의해 ?진단된 2례 -

김성민, 이병철, 권기한, 김상윤, 유경호, 정 산, 정재우

한림대학교 신경과, 성애병원 신경과

Pelizaeus-Merzbacher Disease :Two Cases in a Family Diagnosed by ?the Clinical Features and Magnetic Resonance Imaging

Sung Min Kim, M.D., Byung Chul Lee, M.D., Ki Han Kwon, M.D., Sang Yun Kim, M.D., Kyung Ho Yoo, M.D., San Jung, M.D., Jae Woo Jung, M.D.

Department of Neurology, College of Medicine, Hallym University, Departmenyt of Neurology, Sung Ae Hospital

Abstract

Pelizaeus-Merzbacher disease(PMD) is very rare x-liked recessive leukodystrophy, rather dysmyelinating d due to defect of biosynthesis of proteolipid protein, a component of myelin. Its usual clinical features are stridor, pendular nystagmus, extrapyramidal sign, pyramydal sign, developmental delay and cognition deterioration. Until now PMD has not been published in our country. A 4-year 3 month-old boy developed abnormal eye movement at 3 months of age. His psychomotor development was delayed. On our examination, definite horizontal pendular nystagmus was noted. He showed severe dysarthria, quadriparesis with generalized hyperreflexia, bilateral extensor plantar signs. All laboratory findings including cerebrospinal fluid study were normal. Brain magnetic resonance image (MRI) -revealed diffuse and symmetrical white matter changes in cerebrum and cerebellum. His 23-year-old younger maternal uncle also showed similar clinical history and brain MRI findings. Although the diagnosis of PMD depended on histopathologic investigation, recently MRI can make an important contribution to the diagnosis of PMD with characteristic clinical features. So we could diagnose him and his uncle as PMD.