Spastic Paraparesis and Marked Improvement of Leukoencephalopathy in Aicardi-Goutieres Syndrome

被引：8

作者：

La Piana, Roberta ^{[1
,2
]}

Tran, Luan T. ^{[3
,4
,5
]}

Guerrero, Kether ^{[3
,4
,5
]}

Brais, Bernard ^{[1
]}

Levesque, Sebastien ^{[6
]}

Sebire, Guillaume ^{[3
,4
,5
]}

Riou, Emilie ^{[7
]}

Bernard, Genevieve ^{[3
,4
,5
]}

机构：

[1] McGill Univ, Montreal Neurol Inst & Hosp, Lab Neurogenet Mot, Montreal, PQ H3A 2B4, Canada

[2] McGill Univ, Montreal Neurol Inst & Hosp, Dept Neuroradiol, Montreal, PQ H3A 2B4, Canada

[3] Montreal Childrens Hosp, Dept Pediat, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

[4] Montreal Childrens Hosp, Dept Neurol, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

[5] Montreal Childrens Hosp, Dept Neurosurg, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada

[6] Ctr Hosp Univ Sherbrooke, Dept Pediat, Div Med Genet, Sherbrooke, PQ, Canada

[7] Ctr Hosp Univ Sherbrooke, Div Pediat Neurol, Dept Pediat, Sherbrooke, PQ, Canada

来源：

NEUROPEDIATRICS | 2014年 / 45卷 / 06期

关键词：

Aicardi-Goutieres syndrome; leukoencephalopathy; spastic paraparesis; MUTATIONS; INFECTION; SAMHD1;

D O I：

10.1055/s-0034-1393710

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Aicardi-Goutieres syndrome (AGS) is a rare genetic disorder with inflammatory immune-mediated pathogenesis. Disease onset is most commonly marked by recurrent fevers, irritability, and developmental regression in the 1st year of life. A stable phase characterized by severe spastic quadriparesis and cognitive deficit follows. Brain calcifications, leukoencephalopathy, and cerebral atrophy are the radiological hallmarks of AGS and often show progression over time. We present an atypical patient with late-onset AGS characterized by spastic paraparesis and a leukoencephalopathy that markedly improved during follow-up, demonstrating a nonprogressive disease course and the exceptional amelioration of the white matter abnormalities.

引用

页码：406 / 410

页数：5

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