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Familial cerebral cavernous malformation Retrospective analysis of one Chinese pedigree

摘要Cerebral cavemous malformation(CCM)is a frequently occurring disease in Latin American populations,but little is known about the prevalence in China.This study enrolled one Chinese family with CCM,comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance.The main clinical manifestations included headache,focal neural dysfunction,and cerebral hemorrhage.The lesions were a mixture of hyperintensity and hypointensity signals on T1WI and T2WI,with a black hypointensity ring on T2WI.CCM cranial magnetic resonance imaging T2WI revealed an iron ring as a result of hemosiderin deposition.Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue.Intralesional hyalinosis,calcification,or bleeding of different phases and perilesional glial hyperplasia were observed,as well as hemosiderin deposition within or around the lesions.These features of this family were consistent with specific genetic,imaging and pathological features of familial CCM.Pathological characteristics reveal repeated hemorrhage,as well as intralesional and perilesional hemosiderin deposition.

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分类号 R74
DOI 10.3969/j.issn.1673-5374.2010.23.006
发布时间 2011-04-12
基金项目
the Medical Health Science and Technology General Program of Guangzhou
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中国神经再生研究(英文版)

中国神经再生研究(英文版)

2010年05卷23期

1802-1806页

SCIMEDLINEISTICCSCDCABP

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