伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病2个家系的临床分析

Clinical analysis of two CADASIL families

目的分析2个CADASIL家系的临床资料,进一步提高对该病的认识。方法收集2个经病理、基因确诊为CADASIL的先证者及其家族成员的临床资料,结合文献对其临床、影像学、皮肤病理改变进行分析。结果所有患者均无偏头痛表现,患者早期常见头晕、耳鸣等椎-基底动脉缺血症状;头部MRI未显示异常改变的2例有症状患者及1例无症状患者,其皮肤活检电镜下可见嗜锇颗粒物质沉积。结论偏头痛不是我国CADASIL患者的常见早期临床表现;病理活检对临床早期诊断CADASIL有重要意义,基因检测进一步完善了诊断。

[Objectives] Clinical data of two CADASIL families were analysed in order to improve the awareness of the disease. [Methods] CADASIL was diagnosed by investigation of uhra-structure changes of arteriole in skin and NOTCH3 gene mutation in the two index cases. The clinical data of these two cases and their family members were collected, and the clinicalpathology and imaging manifestation were analyzed on the bases of the literature that had been reported. [Results] None of our patients showed migraine. The reeurrent ischemie manifestation of vertebral basilar artery system such as episodic vertigo and tinnitus were common in early stage of the patients. Two symptomatic patients and one asymptomatie patient have not been found any MRI changes, but detected Granular osminophific material （GOM） deposited on the skin biopsy by electron microscope examination. [Conclusions] Migraine was not the typical presentation in our population. The positive GOM of biopsy in skin are clinical significance in the early diagnosis of CADASIL, gene mutation can confirm the diagnosis.