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

页码：640 / 643

页数：4

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