Familial cerebral cavernous malformation syndrome in Serbian family

Abstract

Cavernomas are benign vascular malformations, and about 50% of all cases are multiple. The hereditary form of brain cavernomas is uncommon, and it is certainly under diagnosed. Another entity is familial cerebral cavernous malformation syndrome. It is defined as the occurrence of multiple cavernomas or the occurrence of cavernomas in at least two members of a family or the presence of a mutation in one of the three genes causing familial cerebral cavernous malformation syndrome. We present a Serbian family in which three consecutive members of family had brain cavernoma. According to our knowledge, this is second case of hereditary cavernoma described in Serbian population.