Towards a neurocognitive profile in familial cerebral cavernous malformations.

ABSTRACT:

Background

Familial cerebral cavernous malformations (FCCM) is a rare autosomal dominant disease, characterized by vascular malformations that can lead to macro and microhemorrhages. The neurocognitive impact of FCCM is still underrecognized.

Methods

We report the clinical, neurocognitive, imaging and genetic data of a three generation family with FCCM.

Results

A 63-year-old man (proband) had progressive memory impairment since the last year. Neurologic exam was unremarkable. Brain MRI showed multiple large cavernomas (mainly in the pons, left temporal, and right temporo-parietal) and scattered microhemorrhages. Neuropsychological assessment mainly revealed left frontal and right temporo-parietal dysfunction. A 41-year-old daughter, presented with headache, vertigo an

SUBMITTER: Silva C 

PROVIDER: S-EPMC10874322 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature