进行性骨干发育不良伴右侧横窦狭窄一例  

Progressive diaphyseal dysplasia with right transverse sinus stenosis： a case report

作　　者：贾欢[1] 武彦敏[1] 张令霞 田晔[1] 韩旭 马改英 陈丽萍[1] Jia Huan;Wu Yanmin;Zhang Lingxia;Tian Ye;Han Xu;Ma Gaiying;Chen Liping(Department of Neurology,the Second Hospital of Hebei Medical University（Key Laboratory of Hebei Neurology）,Shijiazhuang 050000,Chin)

机构地区：[1]河北医科大学第二医院神经内科(河北省神经病学重点实验室),石家庄050000

出　　处：《中华神经科杂志》2018年第7期540-543,共4页Chinese Journal of Neurology

摘　　要：进行性骨干发育不良，又称Camurati—Engelmann病，是一种累及长骨骨干、出现进行性和对称性皮质增厚为特点的罕见常染色体显性遗传病；其致病基因是位于19q13的TGFB1，引起骨骼代谢异常。我们报道1例青年Camurati—Engelmann病患者，以突出慢性高颅压、进行性视力下降为特征，经全脑血管造影发现右侧横窦狭窄。首次揭示在Camurati—Engelmann病患者中静脉窦狭窄也是造成慢性高颅压的病因，并进行了血管内治疗。Progressive diaphyseal dysplasia, also called Camurati-Engelmann disease （CED） , is a kind of autosomal dominant disease mainly involved in long diaphysis, characterized as progressive and symmetric cortical thickening as well as low prevalence. The pathogenic gene of the disease is TGFB1 located in 19q13, resulting in abnormal bone metabolism. We report a young woman suffering from CED, mainly presented as decreased visual acuity, chronic high intracranial pressure and skull damages by cerebral angiography. The digital subtraction angiography revealed the right transverse sinus stenosis. We first revealed a CED patient with chronic high intracranial pressure caused by sinus stenosis, and selected intravascular therapy for the sinus stenosis.

关 键 词：Camurati—Engeimann综合征 TGFB1基因 慢性高颅压 静脉窦狭窄 

分 类 号：R596.1[医药卫生—内科学]