CADASIL. Estudio neuropatológico de un caso

Abstract

Background: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cause of stroke and vascular dementia in adults. Objective: to report the histopathological and ultrastructural findings in a patient with CADASIL at the time of diagnosis and in the post mortem study of the central nervous system, 10 years later. Patients and methods: we studied a patient with migraine with aura and a family history of migraine, stroke and dementia. Imaging tests, skin and muscle biopsies and molecular studies of Notch 3 were performed. In the post mortem examination, representative regions of the brain, muscle and skin samples were studied. Results: striking leukoaraiosis was found on MRI. Electrondense granular deposits characteristic of CADASIL were identified in the vascular walls in the biopsy samples. A mutation was detected in Notch 3 gene. Post mortem examination showed multiple brain infarcts, demyelination and vascular wall thickening, with striking granular deposits. Conclusions: neuropathological examination showed the characteristic findings of evolved CADASIL in the brain, skin and skeletal muscle vessels. The presence of early strokes in patients with family history should suggest the diagnosis of CADASIL (Alzheimer. Real Invest Demenc. 2011;48:5-12)