title: [Hereditary cerebral cavernous malformations: analysis of 12 families].
abstract: Familial (hereditary) cerebral cavernous malformations (CCM) are rare disorders, they have autosomal-dominant type of inheritance. We report 12 families of non-Hispanic descent in which 54 typical CCM were discovered. In 8 families CCM were identified in 2 generations, in 2 - in 3 generations. 46 lesions were supratentorial, 8 - subtentorial. Multiple lesions were present in 67% of cases. Manifestation was observed in 24 persons, including seizures in 17 and hemorrhage in 7. In 9 of 10 families onset of symptoms was earlier with every next generation. In one patient asymptomatic parietal CCM was associated with symptomatic posterior fossa AVM and cutaneous angioma. On the follow-up MRI revealed no new lesions. Surgical treatment was performed in 14 cases: in 13 patients 15 CCM were removed, and 1 patient underwent third ventriculostomy. The paper discusses evaluation and management of families with symptomatic and asymptomatic types of disease, trends and perspectives of further investigations.
authors.forename: O B
authors.initials: OB
authors.lastname: Belousova
authors.forename: A N
authors.initials: AN
authors.lastname: Konovalov
authors.forename: D N
authors.initials: DN
authors.lastname: Okishev
authors.forename: O B
authors.initials: OB
authors.lastname: Sazonova
authors.forename: A Iu
authors.initials: AIu
authors.lastname: Shamov
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D005190:Family; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D006391:Hemangioma / Q000235:genetics / Q000473:pathology / Q000628:therapy; D006801:Humans; D020300:Intracranial Hemorrhages / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012189:Retrospective Studies; D012640:Seizures / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology / Q000628:therapy