PROPIONIC ACIDEMIA - A NEUROPATHOLOGICAL STUDY OF 2 PATIENTS PRESENTING IN INFANCY

被引：14

作者：

HARDING, BN ^{[1
]}

LEONARD, JV ^{[1
]}

ERDOHAZI, M ^{[1
]}

机构：

[1] UCL NATL HOSP NEUROL & NEUROSURG, INST NEUROL, LONDON, ENGLAND

来源：

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY | 1991年 / 17卷 / 02期

关键词：

PROPIONIC ACIDEMIA; MOVEMENT DISORDER; MARBLING; BASAL GANGLIA;

D O I：

10.1111/j.1365-2990.1991.tb00704.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The clinical and neuropathological findings are described in two children with propionic acidaemia presenting in infancy; they survived for 4 and 16 years respectively. Abnormalities were noted in the basal ganglia of both patients. In one child who clinically had severe athetosis, there was marbling of the corpus striatum. Clinical and morphological evidence suggests that the basal ganglia are especially vulnerable in propionic acidaemia.

引用

页码：133 / 138

页数：6

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