Siblings With Leukoencephalopathy

被引：18

作者：

Breningstall, Galen N. ^{[1
]}

Shoffner, John ^{[2
]}

Patterson, Richard J. ^{[3
]}

机构：

[1] Gillette Childrens Specialty Healthcare, Dept Pediat Neurol, St Paul, MN 55101 USA

[2] Med Neurogenet LLC, Atlanta, GA USA

[3] Childrens Hosp & Clin Minnesota, Dept Radiol, Minneapolis, MN USA

来源：

SEMINARS IN PEDIATRIC NEUROLOGY | 2008年 / 15卷 / 04期

关键词：

D O I：

10.1016/j.spen.2008.10.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encoded subunit of complex 1. Diffuse leukoencephalopathy may be a presentation of complex 1 deficiency. Semin Pediatr Neurol 15:212-215 (C) 2008 Elsevier Inc. All rights reserved.

引用

页码：212 / 215

页数：4

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