Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome
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DOI:
10.1016/s0887-8994(01)00296-x
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发表时间:
2001-08-01
影响因子:
3.8
通讯作者:
Wheeler, PG
Wheeler, PG
中科院分区:
医学3区
文献类型:
--
作者:
Hayflick, SJ;Penzien, JM;Wheeler, PG

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在两个家庭中,患有哈勒沃登-斯帕茨综合征的儿童的兄弟姐妹在出现该疾病的临床特征之前表现出特征性的颅磁共振成像变化。与20p染色体上一个主要位点的联系支持Hallervorden-Spatz综合征的诊断。在一些Hallervorden-Spatz综合征患者中,铁在临床症状出现之前就有明显的影像学表现。(C) 2001年Elsevier Science Inc.版权所有。
Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging changes before developing clinical features of the disease. Linkage to a major locus on chromosome 20p supported the diagnosis of Hallervorden-Spatz syndrome. In some patients with Hallervorden-Spatz syndrome, iron is radiographically evident before the onset of clinical symptoms. (C) 2001 by Elsevier Science Inc. All rights reserved.