L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family

被引：27

作者：

Fujitake, J

Ishikama, Y

Fujii, H

Nishimura, K

Hayakawa, K

Inoue, F

Terada, N

Okochi, M

Tatsuoka, Y

机构：

[1] Kyoto City Hosp, Dept Neurol, Nakagyo Ku, Kyoto 6048845, Japan

[2] Kyoto City Hosp, Dept Radiol, Nakagyo Ku, Kyoto 6048845, Japan

[3] Kyoto Prefectural Univ Med, Dept Pediat, Kyoto 602, Japan

[4] Kyoto Univ Educ, Dept Sch Hlth, Kyoto 612, Japan

来源：

JOURNAL OF NEUROLOGY | 1999年 / 246卷 / 05期

关键词：

L-2-hydroxyglutaric aciduria; adult case; magnetic resonance imaging; Japanese; elderly;

D O I：

10.1007/s004150050367

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report two adult Japanese sisters with L-2-hydroxyglutaric aciduria (acidemia), both of whom were much older (aged 57, 47 years old) than previously reported patients (from neonate to 44 years old), and who presented with differing severity Magnetic resonance imaging revealed typical subcortical white matter lesions in both cases and showed brainstem atrophy and thickness of the calvarium in the elder sister. L-2-Hydroxyglutaric acid levels were increased in urine, plasma, and cerebrospinal fluid. These cases suggest that organic acid analysis is necessary even in elderly patients who seem to have neurodegenerative disorders.

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收藏

页码：378 / 382

页数：5

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