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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