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

VernacularTitle:进行性骨干发育不良伴右侧横窦狭窄一例
Author: Huan JIA ¹ ; Yanmin WU ; Lingxia ZHANG ; Ye TIAN ; Xu HAN ; Gaiying MA ; Liping CHEN
Author Information

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)
Keywords: Camurati-Engelmann syndrome; TGFB1 gene; Chronic high intracranial pressure; Venous sinus stenosis
From: Chinese Journal of Neurology 2018;51(7):540-543
CountryChina
Language:Chinese
Abstract: 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 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.