Familial cerebral cavernous malformation syndrome in Serbian family

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...

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Veröffentlicht in:Romanian neurosurgery 2018-12, Vol.32 (4)
Hauptverfasser: Aleksić Vuk, Mandarić Aleksandar, Mihajlović Miljan, Aleksić Nemanja, Rapaić Marko, Jovančević Miroljub, Stanić Milenko, Samardžić Marko, Popović Igor, Miladinović Vladimir, Spaić Milan
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Sprache:eng
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Zusammenfassung: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.
ISSN:1220-8841
2344-4959