CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL-NERVOUS-SYSTEM HYPOMYELINATION

被引:189
作者
SCHIFFMANN, R
MOLLER, JR
TRAPP, BD
SHIH, HHL
FARRER, RG
KATZ, DA
ALGER, JR
PARKER, CC
HAUER, PE
KANESKI, CR
HEISS, JD
KAYE, EM
QUARLES, RH
BRADY, RO
BARTON, NW
机构
[1] NINCDS, MOLEC & CELLULAR NEUROBIOL LAB, BETHESDA, MD 20892 USA
[2] NINCDS, OFF CLIN DIRECTOR, BETHESDA, MD 20892 USA
[3] NINCDS, NEUROIMAGING BRANCH, BETHESDA, MD 20892 USA
[4] NINCDS, SURG NEUROL BRANCH, BETHESDA, MD 20892 USA
[5] JOHNS HOPKINS UNIV, DEPT NEUROL, BALTIMORE, MD 21218 USA
[6] TUFTS UNIV NEW ENGLAND MED CTR, DIV PEDIAT NEUROL, BOSTON, MA 02111 USA
关键词
D O I
10.1002/ana.410350314
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A significant number of patients with progressive leukodystrophy do not have a definitive diagnosis. This report describes the clinical, morphological, and biochemical characteristics of 4 unrelated girls with progressive ataxic diplegia of unknown etiology. These patients had normal development until the ages of 1.5 to 5 years. A diffuse confluent abnormality of the white matter of the central nervous system was present on computed tomography and magnetic resonance scans obtained early in the course of the illness. Dementia was not present and peripheral nerves were normal. All patients were evaluated for known metabolic and degenerative diseases and no abnormalities were observed. Light and electron microscopy of open-brain biopsy specimens from 2 girls showed selective white matter abnormalities including hypomyelination, demyelination, and gliosis. Myelin-specific proteins in the subcortical white matter were examined immunocytochemically and by Western blot analysis. They were of normal molecular size but were markedly reduced in quantity in both patients compared to control subjects. Lipid analysis revealed decreased levels of characteristic myelin lipids. When examined by magnetic resonance spectroscopic imaging, all patients showed a marked decrease of N-acetylaspartic acid, choline, and creatine in white matter only. The magnetic resonance spectroscopic imaging profile is a unique diagnostic feature of this clinicopathological syndrome.
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页码:331 / 340
页数:10
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