Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA

被引：13

作者：

van Westrum, SMS

Nederkoorn, PJ

Schuurman, PR

Vulsma, T

Duran, M

Poll-The, BT

机构：

[1] Univ Amsterdam, Acad Med Ctr, Div Pediat Neurol, Dept Pediat, NL-1100 DD Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Neurosurg, NL-1100 DD Amsterdam, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1100 DD Amsterdam, Netherlands

来源：

JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 01期

关键词：

D O I：

10.1016/j.jpeds.2005.08.048

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report on a boy with a congenital disorder of glycosylation (CDG) la and a severe narrowing of the spinal canal caused by atlantoaxial subluxation with anterior displacement of C1. C1-laminectomy improved the progressive paresis. Progressive paresis caused by spinal cord compression is a hitherto unrecognized complication in patients with CDG-Ia.

引用

收藏

页码：115 / 117

页数：3

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