Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations

被引：10
|
作者：
Goyal, M.
Cohen, M. L.
Bangert, B. A.
Robinson, S.
Singer, N. G.
机构：
[1] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Div Rainbow Babies, Div Pediat Neurol, Cleveland, OH 44106 USA
[2] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Div Rainbow Babies, Div Pediat Neurol Surg, Cleveland, OH 44106 USA
[3] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Div Rainbow Babies, Div Pediat Rheumatol, Cleveland, OH 44106 USA
[4] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Div Rainbow Babies, Dept Pathol, Cleveland, OH 44106 USA
[5] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Div Rainbow Babies, Dept Radiol, Cleveland, OH 44106 USA
[6] Case Western Reserve Univ, Univ Hosp Case Med Ctr, Childrens Hosp, Cleveland, OH 44106 USA
来源：
NEUROLOGY | 2007年 / 69卷 / 07期
关键词：
D O I：
10.1212/01.wnl.0000267429.89675.03
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Rasmussen syndrome (RS) is a clinical diagnosis characterized by persistent focal seizures in a previously healthy child. Occasionally, the typical features of RS may be followed by another diagnosis. We discuss the course of a 12-year-old girl who presented with RS but was later diagnosed with CNS granulomatous disease and NOD2/CARD15 mutations. Her response to infliximab suggests that it should be included in immune-modulatory therapies used to treat these refractory disorders.
引用
收藏
页码：640 / 643
页数：4
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