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.

abstractsProgressive 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 TGFB 1 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.