Galloway-Mowat Syndrome: Neurologic Features in Two Sibling Pairs

被引:9
作者
Ekstrand, Jeffrey J. [3 ]
Friedman, Aaron L. [4 ]
Stafstrom, Carl E. [1 ,2 ]
机构
[1] Univ Wisconsin, Dept Neurol, Sch Med & Publ Hlth, Madison, WI 53705 USA
[2] Univ Wisconsin, Dept Pediat, Sch Med & Publ Hlth, Madison, WI 53705 USA
[3] Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT USA
[4] Univ Minnesota, Sch Med, Dept Pediat, Minneapolis, MN 55455 USA
关键词
ONSET NEPHROTIC SYNDROME; PROTEINS;
D O I
10.1016/j.pediatrneurol.2012.04.011
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Galloway-Mowat syndrome is an autosomal recessive disorder presenting as early-onset nephrotic syndrome and central nervous system abnormalities, including microcephaly and developmental delays. Neurologic findings are universal in children with this disorder, and often precede renal abnormalities. However, relatively few descriptions of associated neurologic features are available. We describe two pairs of siblings with Galloway-Mowat syndrome who illustrate the spectrum of neurologic findings, to increase awareness of this syndrome among pediatric neurologists. (C) 2012 Elsevier Inc. All rights reserved.
引用
收藏
页码:129 / 132
页数:4
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