Resumo

GARCIA-LORENZO, Marta; MAQUEDA-ZAMORA, Gloria; COMANDA, Marta  e  CONDE-PEDROMINGO, María. Cadasil disease: family strokes. Rev Clin Med Fam [online]. 2023, vol.16, n.4, pp.358-360.  Epub 04-Mar-2024. ISSN 2386-8201.  https://dx.doi.org/10.55783/rcmf.160411.

CADASIL is a brain microangiopathy with autosomal dominant inheritance. Although its epidemiology and pathogenesis are poorly understood, it is known to be caused by a mutation of the Notch3 gene. Its clinical expression is variable, dominated by episodes of migraine with aura followed by recurrent cerebral ischemic episodes, dementia and neuropsychiatric disorders. Final diagnosis is made fundamentally with magnetic resonance imaging from the pre-symptomatic phase. CADASIL is managed in a multidisciplinary way. Below, we report a case of a patient who presented multiple cerebrovascular accidents. Magnetic resonance imaging revealed extensive white matter involvement in both cerebral hemispheres and in the genetic study mutation compatible with CADASIL disease.

Palavras-chave : CADASIL; Stroke; Vascular Dementia.

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