CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review

Abstract

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, Maedasyndrome) is an extremely rare autosomal-recessive genetic disorder with a serious arteriopathy causing subcorticalinfarcts and leukoencephalopathy. In less than 20 cases, a genetic mutation was proven. Patients suffer from alopecia, discherniations, and spondylosis. Between the age of 30 and 40, the patients typically develop severe cerebral infarcts. Clinicalsymptoms, genetic study, magnetic resonance imaging (MRI), and coronary angiography of a patient with proven CARASILare presented. The patient showed the typical phenotype with cerebral small-vessel disease, cerebral infarcts, spondylosis,and abnormal hair loss. Additionally, distinct cerebral microhemorrhage and a severe coronary artery disease (CAD)were found, which have not been reported before for CARASIL. Mutation screening revealed the presence of ahomozygous c.1022G > T substitution in the HTRA1 gene. Evidence from other publications supports a pathogenetic linkbetween the HTRA1 mutation and CAD as a new feature of CARASIL. This is the first report about CARASIL with aconcomitant severe CAD. Thus, in patients with CARASIL, other vessel diseases should also be considered.