Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge

被引：38

作者：

Ebbink, Berendine J. ^{[1
]}

Poelman, Esther ^{[1
]}

Plug, Iris ^{[1
]}

Lequin, Maarten H. ^{[1
]}

van Doorn, Pieter A. ^{[1
]}

Aarsen, Femke K. ^{[1
]}

van der Ploeg, Ans T. ^{[1
]}

van den Hout, Johanna M. P. ^{[1
]}

机构：

[1] Erasmus MC Univ Med Ctr, Rotterdam, Netherlands

来源：

NEUROLOGY | 2016年 / 86卷 / 13期

关键词：

ENZYME REPLACEMENT THERAPY;

D O I：

10.1212/WNL.0000000000002523

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Classic infantile Pompe disease is a progressive lysosomal glycogen storage disorder, which, if untreated, leads to severe skeletal muscle weakness, inability to achieve any motor milestones, and death in the first year. In 1999, we reported the first successful use of enzyme replacement therapy (ERT).(1) Since then, patients' outcome with respect to survival, cardiac function, and motor performance has improved significantly. The oldest patient is currently 16 years old. Although glycogen storage occurs in the brain as well, and ERT cannot pass the blood-brain barrier, so far clinical studies show normal to mildly delayed cognitive development.(2,3)

引用

页码：1260 / 1261

页数：2

共 5 条

[1] Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy [J].