Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

被引：28
|
作者：
van Ommen, CH
Peters, M
Barth, PG
Vreken, P
Wanders, RJA
Jaeken, J
机构：
[1] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat,Div Pediat Hematol, NL-1105 AZ Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Div Pediat Neurol, NL-1105 AZ Amsterdam, Netherlands
[3] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands
[4] Univ Louvain, Dept Pediat, Louvain, Belgium
[5] Univ Louvain, Ctr Metab Dis, Louvain, Belgium
来源：
JOURNAL OF PEDIATRICS | 2000年 / 136卷 / 03期
关键词：
D O I：
10.1067/mpd.2000.103503
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome type la. Isoelectric focusing of serum transferrin was abnormal. The activity of phosphomannomutase in leukocytes and fibroblasts was decreased. Mutation analysis of the PMM2 gene revealed the R141H/E151G genotype. These results confirm the presence of carbohydrate-deficient glycoprotein syndrome type la without severe psychomotor retardation.
引用
收藏
页码：400 / 403
页数：4
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