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


METHODS
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).


RESULTS
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.


CONCLUSIONS
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.
Domingues
Flávio
F
Service of Neurosurgery, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro RJ, Brazil.
Gasparetto
Emerson L
EL
Andrade
Ricardo
R
Noro
Fabio
F
Eiras
Antônio
A
Gault
Judith
J
Correia
Carlos Eduardo Silva
CE
de Souza
Jorge Marcondes
JM
D000293:Adolescent; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005190:Family; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000235:genetics* / Q000628:therapy; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics*
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins