Familial cerebral cavernous malformation syndrome in Serbian family

Autor:	Aleksić Vuk, Mandarić Aleksandar, Mihajlović Miljan, Aleksić Nemanja, Rapaić Marko, Jovančević Miroljub, Stanić Milenko, Samardžić Marko, Popović Igor, Miladinović Vladimir, Spaić Milan
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	Cavernoma Familial cerebral cavernous malformation syndrome multiple cavernomas Neurology. Diseases of the nervous system RC346-429
Zdroj:	Romanian Neurosurgery, Vol 32, Iss 4 (2018)
Druh dokumentu:	article
ISSN:	1220-8841 2344-4959
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/89ecbc5564bb4aa0aaa1e0b7f87037cc Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF