Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoancepahlopathy presenting with postpartum psychosis and late-onset stroke

Abstract

Aim: To describe the unusual presentation of a novel family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoancepahlopathy. Presentation of cases: The clinical features of five patients from three successive generations are described. The index patient presented with postpartum psychosis followed by cognitive decline. Brain imaging revealed no temporal pole involvement. Genetic testing was performed by full scan of the entire NOTCH3 gene revealing the R169C mutation. Multiple cardiovascular risk factors and late-onset strokes were present in the family. Conclusion: The combination of atypical psychiatric onset, absence of anterior temporal lesions, presence of cardiovascular risk factors and late-onset stroke may obscure the correct diagnosis for many years and requires a high index of suspicion.