CLINICAL AND PATHOLOGICAL-STUDY OF 3 TUNISIAN SIBLINGS WITH L-2-HYDROXYGLUTARIC ACIDURIA

被引：36

作者：

LARNAOUT, A ^{[1
]}

HENTATI, F ^{[1
]}

BELAL, S ^{[1
]}

BENHAMIDA, C ^{[1
]}

KAABACHI, N ^{[1
]}

BENHAMIDA, M ^{[1
]}

机构：

[1] LAB BIOCHIM MED,TUNIS,TUNISIA

来源：

ACTA NEUROPATHOLOGICA | 1994年 / 88卷 / 04期

关键词：

POLYCYSTIC WHITE MATTER DEGENERATION SPONGIOSIS; L-2-HYDROXYGLUTARIC ACIDURIA;

D O I：

10.1007/BF00310381

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

This report describes three brothers belonging to a consanguineous family suffering from a progressive neurological disorder associated with L-2-hydroxyglutaric aciduria. Clinically this disorder is characterized by childhood onset, pyramidal signs, cerebellar and pseudobulbar syndromes and epilepsy. Pathological examination of the brain in the oldest patient, who died at the age of 30 years, showed bilateral and diffuse spongiosis with notable cystic cavitations of the cerebral white matter without abnormal storage in neurons and glial cells. We consider that these findings are related to L-2 hydroxyglutaric aciduria. To our knowledge this present case represents the first to be reported with neuropathological examination.

引用

页码：367 / 370

页数：4

共 21 条

[1] L-2-HYDROXYGLUTARIC ACIDEMIA - A NOVEL INHERITED NEUROMETABOLIC DISEASE [J].