Clinical research of cerebral microbleeds in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Abstract

Objective To investigate the frequency and location of cerebral microbleeds in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) to understand the imaging and clinical features of the disease. Methods Cranial magnetic resonance imaging and susceptibility-weighted imaging were assessed in seven symptomatic CADASIL patients in People′s Hospital of Zhengzhou University from 2014 to 2017.Imaging features and clinical significance of these patients were analyzed retrospectively. Results The seven patients were diagnosed by Notch3 gene detection. Mutations were found in exon 11 in four cases, and in exon 4 in three cases. All the seven patients with CADASIL had cerebral microbleeds, the number of which was 108 (4-36). The number of cerebral microbleeds was found to be higher in cortico-subcortical region than in any other regions.One of CADASIL patients with cerebral microbleeds had intracerebral hemorrhage located in external capsule. The patient with intracerebral hemorrhage had hypertension and multiple cerebral microbleeds. Conclusions Cerebral microbleeds are common imaging characteristics in symptomatic CADASIL, most of which locate in cortico-subcortical region. Cerebral hemorrhage is one of the clinical manifestations of CADASIL patients. Key words: CADASIL; Cerebral hemorrhage; Magnetic resonance imaging