INTERMITTENT ENCEPHALOPATHY, REVERSIBLE NERVE-CONDUCTION SLOWING, AND MRI EVIDENCE OF CEREBRAL WHITE-MATTER DISEASE IN METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY

被引：24

作者：

WALK, D

KANG, SS

HORWITZ, A

机构：

[1] UNIV ILLINOIS,DEPT NEUROL,CHICAGO,IL

[2] RUSH MED COLL,DEPT PEDIAT,GENET SECT,CHICAGO,IL

[3] RUSH PRESBYTERIAN ST LUKES MED CTR,CHICAGO,IL

[4] UNIV ILLINOIS,DEPT PEDIAT,CHICAGO,IL

来源：

NEUROLOGY | 1994年 / 44卷 / 02期

关键词：

D O I：

10.1212/WNL.44.2.344

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a patient with methylenetetrahydrofolate reductase (MTHFR) deficiency in whom clinical and electrophysiologic fluctuations paralleled exacerbations of hyperhomocyst(e)inemia. MRI demonstrated abnormalities characteristic of a leukodystrophy.

引用

收藏

页码：344 / 347

页数：4

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