6p25缺失综合征中的脑白质异常
Cerebral white matter abnormalities in 6p25 deletion syndrome.
作者信息
van der Knaap M S, Kriek M, Overweg-Plandsoen W C G, Hansson K B, Madan K, Starreveld J S, Schotman-Schram P, Barkhof F, Lesnik Oberstein S A M J
机构信息
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
出版信息
AJNR Am J Neuroradiol. 2006 Mar;27(3):586-8.
Abstract
Submicroscopic deletion of the terminal part of the short arm of chromosome 6, including 6p25, leads to developmental retardation, hearing impairment, ocular dysgenesis, and dysmorphic features. We diagnosed 3 patients referred because of white matter abnormalities of unknown origin. MR imaging showed multifocal areas of abnormal signal and enlarged perivascular spaces in the cerebral white matter that were stable during follow-up. Multifocal white matter abnormalities are most commonly seen in static, nonmetabolic encephalopathies, including chromosomal abnormalities.
摘要
6号染色体短臂末端的亚显微缺失，包括6p25，会导致发育迟缓、听力障碍、眼发育异常和畸形特征。我们诊断了3例因不明原因的白质异常前来就诊的患者。磁共振成像显示脑白质内有多发异常信号区和扩大的血管周围间隙，随访期间稳定。多发白质异常最常见于静止性、非代谢性脑病，包括染色体异常。
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