Cerebral arteriopathy with subcortical infarctions and leukoencephalopathy with dominant autosomal inheritance (CADASIL). Clinical and morphological study

OBJECTIVE: The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by the recurrence of subcortical infarcts leading to dementia. It is known the genetic and neuroimaging findings, but there are few studies about its histopathology. Our objective had been to study the pathological findings in this arteriopathy. SUBJECTS AND METHODS: We studied two families spreading over four generations. We performed a detailed clinical history, laboratory investigations, neuroimaging study and genetic analysis. Two brain biopsies and one autopsy were done in patients from the two families. RESULTS: Eight affected members, with autosomal dominant inheritance. Age at onset was between 40 and 50 years. This was characterized clinically by recurrent ischemic attacks, headache and subcortical dementia without vascular risk factors. Histopathological findings showed an arteriopathy characterized by a slightly basophilic small arterial granular degeneration of the medial sheath associated with the presence of ballooned smooth muscle cells with clear cytoplasm. CONCLUSION: The histopathological findings of CADASIL show a characteristic arteriopathy that allow a better understanding of its pathogenesis and could contribute for its diagnosis.