Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management

• Published in: Arquivos de neuro-psiquiatria 2008-12, Vol.66 (4), p.795-799
• Main Authors: Domingues, Flávio, Gasparetto, Emerson L, Andrade, Ricardo, Noro, Fabio, Eiras, Antônio, Gault, Judith, Correia, Carlos Eduardo Silva, de Souza, Jorge Marcondes
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Cohort Studies; Family; Female; Germ-Line Mutation - genetics; Humans; Intracranial Arteriovenous Malformations - genetics; Intracranial Arteriovenous Malformations - therapy; KRIT1 Protein; Magnetic Resonance Imaging; Male; Microtubule-Associated Proteins - genetics; NEUROSCIENCES; Phenotype; Proto-Oncogene Proteins - genetics; PSYCHIATRY
• ISSN: 0004-282X; 1678-4227; 1678-4227; 0004-282X
• DOI: 10.1590/S0004-282X2008000600003

Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic profile and the pattern of emergent neuroimaging findings of this particular population besides a review of the updated recommendations for management of familial CCM versus patients harboring sporadic lesions. Four families of our cohort of 9 families were genetically mapped showing mutational profile linked to CCM1. The neuroimaging paradigm was shifted from T2*gradient-echo (GRE) sequence to susceptibility weighting MR phase imaging (SWI). Only two index cases were subjected to surgery. There was no surgical intervention in any of the kindreds of our entire cohort of 9 families of our Neurovascular Program within seven years of follow-up. The genetic sequencing for mutational profile in four of these families has demonstrated only CCM1 gene affected. Our management of the familial CCM is according to the review of the literature recommendations. The Project of Familial Cerebral Cavernous Malformations of Rio de Janeiro detected mutations of the gene CCM1 in the first four families studied. Familial cavernous malformation are to be settled apart from the more common sporadic lesion. A set of recommendations was searched for in the literature in order to deal with these specific patients and kindreds.