L-2-hydroxyglutaric aciduria - A rare cause of macrocephaly

被引：3

作者：

Hussmann, O

Haas, D

Neubauer, BA

Kruse, B

Huegens-Penzel, M

Jakobs, C

Hahn, A

机构：

[1] Univ Giessen Klinikum, Zentrum Kinderheilkunde, Abt Neuropadiat & Sozialpadiat, D-35392 Giessen, Germany

[2] Univ Giessen Klinikum, Abt Neuroradiol, D-6300 Giessen, Germany

[3] Univ Klinikum Amsterdam, Abt Klin Chem & Padiat, Amsterdam, Netherlands

[4] Univ Kinderklin Heidelberg, Sekt Angeborene Stoffwechselerkrankungen, Heidelberg, Germany

来源：

KLINISCHE PADIATRIE | 2006年 / 218卷 / 02期

关键词：

macrocephaly; leukoencephalopathy; L-2-hydroxyglutaric aciduria;

D O I：

10.1055/s-2005-836848

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report on a 9-year-old girl who was referred to our department because of increasing macrocephaly and school problems. The neurological examination disclosed mild cerebellar dysfunction and positive pyramidal tract signs. An MRI of the brain revealed extensive signal alterations of the white matter. Biochemical investigations established the diagnosis of L-2-hydroxyglutaric aciduria which has to be kept in mind as a rare cause of macrocephaly.

引用

页码：72 / 73

页数：2

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