遗传性弥漫性白质脑病伴球形细胞
Hereditary diffuse leucoencephalopathy with spheroids.
作者信息
Hancock N, Poon M, Taylor B, McLean C
机构信息
Department of General Internal Medicine, Royal Hobart Hospital, Tasmania, Australia.
出版信息
J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1345-7. doi: 10.1136/jnnp.74.9.1345.
Abstract
Hereditary diffuse leucoencephalopathy with spheroids (HDLS) is a rare inherited progressive leucoencephalopathy characterised by giant neuroaxonal swellings (spheroids) within the CNS white matter. The case is reported of a 45 year old woman with a rapidly progressive fulminant illness course characterised by progressive cognitive decline with depressive features. A presumed dominant inheritance pattern was elicited. This report reviews the literature on HDLS and the relation of this disorder to other conditions with giant neuroaxonal swellings.
摘要
遗传性弥漫性白质脑病伴球状体（HDLS）是一种罕见的遗传性进行性白质脑病，其特征是中枢神经系统白质内出现巨大的神经轴突肿胀（球状体）。本文报道了一例45岁女性患者，其病程呈快速进展的暴发性，以伴有抑郁特征的进行性认知衰退为特点。推测为显性遗传模式。本报告回顾了关于HDLS的文献以及该疾病与其他伴有巨大神经轴突肿胀病症的关系。
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