Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement.
OBJECTIVE
Although there is general agreement on the methods of treatment for symptomatic supratentorial cerebral cavernous malformations (CMs) located in noneloquent areas, some controversy exists regarding the management of cerebral CMs that are asymptomatic and/or located in eloquent or deep areas. Moreover, recent advances in genetic findings could influence both standard clinical management and the follow-up strategy in affected individuals. Thus, the objective of this study was to develop, based on the authors' experience and a literature review, a management algorithm to deal with supratentorial cerebral CMs.


METHODS
The authors retrospectively reviewed the clinical data related to 118 patients who underwent surgery for symptomatic supratentorial cerebral CMs at their institution. Twenty-eight of 118 patients harbored multiple lesions, and nine of these 28 patients had a clinically positive familial history. Genetic investigations were performed in 89 patients (75%).


CONCLUSIONS
Surgery for supratentorial cerebral CMs in noneloquent locations is safe and curative. In cerebral CMs located in deep and eloquent areas and with symptoms including progressive neurological deficits, evidence of hemorrhage, and uncontrolled seizures, surgical treatment according to an integrated plan based on frameless stereotactic guidance and functional magnetic resonance imaging is recommended and results in acceptably low morbidity. The data support the need for long-term imaging follow up in all patients, careful preoperative vascular studies to detect associated venous anomalies, and the importance of genetic mutational analysis. The DNA screening protocol will change the care of family members of patients with familial forms of cerebral CMs, because affected asymptomatic family members may benefit by early detection of lesions. At the same time, the exclusion of family members who are not carriers of the mutation as members of the population at risk reduces the economic and psychological burden of clinical and instrumental monitoring.
D'Angelo
Vincenzo Antonio
VA
Neurosurgical Operative Unit, Neuromed Institute, Medical Genetic Service, Pathology Service, and Radiology Service, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy. v.dangelo@operapadrepio.it
De Bonis
Costanzo
C
Amoroso
Rosina
R
Cali
Alessandro
A
D'Agruma
Leonardo
L
Guarnieri
Vito
V
Muscarella
Lucia Anna
LA
Zelante
Leopoldo
L
Bisceglia
Michele
M
Scarabino
Tommaso
T
Catapano
Domenico
D
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D002550:Cerebral Veins / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000209:etiology / Q000503:physiopathology / Q000601:surgery; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D038361:Neuronavigation; D019635:Neurosurgical Procedures; D011300:Preoperative Care; D012189:Retrospective Studies; D014656:Vascular Surgical Procedures