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Familial cerebral cavernous malformation Retrospective analysis of one Chinese pedigree

机译:家族性脑海绵状畸形一中国家系的回顾性分析

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摘要

Cerebral cavernous 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.

著录项

  • 来源
    《中国神经再生研究(英文版)》 |2010年第23期|1802-1806|共5页
  • 作者单位

    Department of Neurology Guangzhou Red Cross Hospital Guangzhou 510220 Guangdong Province China;

    Department of Neurology Second Affiliated Hospital of Sun Yet-sen University Guangzhou 510120 Guangdong Province China;

  • 收录信息 中国科学引文数据库(CSCD);
  • 原文格式 PDF
  • 正文语种 chi
  • 中图分类
  • 关键词

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