CADASIL的临床影像和病理学特征分析(附1例报告及文献复习)

目的分析CADASIL的临床、影像和病理学特征,提高对CADASIL的认识。方法诊治1例CADASIL患者,详细追问病史,常规检查常见脑血管病危险因素,调查其家系,阅读头部MRI和CT片,进行肌肉、皮肤小动脉活检,结合文献对其临床、影像和病理学进行讨论。结果患者血糖、血压、血脂在正常范围,中年起病,表现为反复缺血性卒中发作;其家系缺血性脑卒中发病呈常染色体显性遗传;头部MRI可发现胼胝体、外囊区长T1和长T2信号,无论头部MRI还是CT均显示额顶叶相对对称的白质病变;电镜检查发现外周血管GOM阳性。结论有阳性家族史、无常见脑血管病危险因素并且发病年龄相对较早的缺血性脑血管病患者应考虑到CADASIL可能,其头部MRI或CT所显示的胼胝体和/或外囊和/或颞极及额顶叶白质对称出现的病变支持该病可能,通过外周血管活检,GOM阳性则可确诊。

Clinical pathology and the imaging manifestations of CADASIL(a case report and literature review)

Objective To study the clinical pathology and the imaging manifestations of CADSIL,and to improve the recognition about it. Methods One case of CADASIL was diagnosed,and to inquire the case history. The risk factors of cerebrovascular diseases was detected. The brain MRI and CT that had performed were given a radical review and the family history was inquired. A biopsy was made in skin and muscle in order to observe the small artery. The clinical pathology and the imaging manifestations were analyzed on the base of the literature that had been reported. Results The serum sugar,blood pressure and blood lipid was normal and the patient subjected the recurrent ischemic stroke,the onset was in middle age. The way of onset in the family was consistent with autoso-mal dominant rule. The brain MRI displayed long T1 and T2 signal in the external capsule and corpis callosum. The symmetric abnormal signals were found in cerebral white matter that located in frontal lobe and parietal lobe by both MRI and CT. Electron microscope examination of the skin and muscle displayed that the GOM was positive in the small artery. Conclusions If one patient without the risk factors of cerebrovascular diseases that occurred ischemic stroke and the onset was in middle age,the doctor should think that the patient may suffered from CADASIL. The symmetric abnormal signals in cerebral white matter that located in frontal lobe and/or parietal lobe and/or temporal poles support the possible diagnosis of CADASIL,and the positive GOM of biopsy in skin or muscle can confirm the diagnosis.