Jornal de Neurologia e Neurociência

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When children help diagnose parents. CADASIL in an old patient.

RM Ceballos-Rodriguez, A Villarejo-Galende, J Gonzalez de la Aleja, I Ampuero, S Llamas-Velasco, FJ Murcia-Garcia

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) is a genetic disease that is usually considered a disorder ofyoung or middle age adults. However, the disorder has important expression variability,with mild cases presenting in old age increasingly reported in recent years.In these cases, clinical and radiological findings can be attributed to other diseaseslike small-vessel disease, and the typical neuroimaging findings may be the only cluefor a correct diagnosis. Here we present the case of a 79 year-old man with severalvascular risk factors and recurrent strokes, in whom the diagnosis of CADASIL wasnot considered until his daughter received it.