Clinical,MRI Features Studies In Cadasil

BackgroundCerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy?CADASIL?is a non-atherosclerotic,non-amyloid small vascular disease.The core clinical manifestations are migraine with or without aura,recurrent small stroke,progressive cognitive decline,and affective disorders.The main imaging features include multiple subcortical infarction,white matter hypertension,and microbleeds.In the T₂ and FLAIR images,anterior temporal lobe and external capsule lesion is indicative of the diagnosis of CADASIL.The disease has undergone a description of"rapidly progressing Bingswanger-like encephalopathy"and"genetic multiple infarct dementia".In 1993,the disease was named"CADASIL".In 1996,it was discovered that Notch3 is a pathogenic genes.In 2000,Xie Shu ping in china first reported CADASIL.To date,more than 500 families have been reported in the world,The clinical manifestations of CADASIL patients are diversified.CADASIL are easily confused with other diseases of the nervous system,such as subcortical arteriosclerotic encephalopathy?Bingswanger disease?,multiple sclerosis,and central nervous system vasculitis.The diagnosis mainly relies on Notch3 gene detection and skin biopsy.The detection of Notch3 mutations is expensive and time consuming,and skin biopsies are invasive tests.Our study aimed to observe the clinical and imaging features of patients with CADASIL in Henan Province.Provides clues for CADASIL diagnosis.ObjectiveTo investigate the clinical manifestations,imaging features in cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopa-thy?CADASIL?MethodsThe patients with CADASIL who were diagnosed by Notch3 gene or skin biopsy at the Department of Neurology,People's Hospital of Zhengzhou University from September 2016 to April 2017 were collected and retrospectively analyzed for their clinical and radiographic features.ResultsA total of 20 patients with CADASIL were diagnosed.They were from eight unrelated households.Six families and their family members were diagnosed by genetic testing,two family and members were diagnosed by pathological examination?10 patients were associated with cerebrovascular risk factors.A total of 16 patients developed clinical symptoms,of which 2 patients had first symptoms over the age of 70,and 1 patients presented with dizziness as the main complaint,1 patients presented with cognitive decline as the main complaint.Cranial MRI and MRA were performed in 11 patients and SWI was performed in 4patients.MRI found white matter lesions in the brainstem,subcortical white matter,lateral ventricles,temporal lobe,external capsules.7 cases with white matter lesions in temporal lobe,8 cases with white matter lesions inexternal capsules.Lacunar infarction was more involved in the thalamus,basal ganglia,pons,corpus callosum;7 cases with corpus callosal infarction,2 cases with corpus callosum atrophy.MRA found 1 patient with right middle cerebral artery stenosis.In 4 patients with SWI,there were different numbers of microbleeds?6-131?,mostly distributed cortical-subcortical..Cerebral hemorrhage occurred in 1 patient with hypertension,multiple microbleeding,and no anti-platelet therapy.Conclusion1)The onset age of the some CADASIL patient was old,the symptoms are not typical.2)In patients with symptomatic CADASIL,microbleeding is a common imaging manifestation,mostly distributed the cortical-subcortical.Cerebral hemorrhage is one of the clinical manifestations of CADASIL patients.