Discovery of familial cerebral cavernous malformation in a Saudi population.

ABSTRACT: Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time. Both the index patients had a seizure as a prominent manifestation of their underlying structural lesion. One of them had recurrent attacks of bleeding in the cavernoma leading to a focal neurological deficit. The siblings and the parents of both the patients were screened using CT of the brain imaging. Two members within each family were found to have symptomatic cavernoma. A molecular genetics study revealed heterozygous KRIT1/CCM1 for a frameshift mutation in one of the patients. No detectable mutation wa

SUBMITTER: Nahrir S 

PROVIDER: S-EPMC3841714 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature