Abstracts

Rationale: Cavernous malformations have been found in 0.4-0.9% of the population. The familial form, which constitutes 10-30 percent of patients with cavernous malformations, is passed in an autosomal dominant inheritance pattern. The familial form also has a predilection for certain racial groups, most notably the Hispanic population of Mexican descent and specific European populations. We studied multiple cases to identify the features of associated epilepsy, as well as surgical outcomes.Methods: Ten pediatric patients, born between 1992 and 2002, with confirmed or suspected familial cavernous malformations and epilepsy were identified. Eight of ten showed clear evidence of epilepsy. A retrospective review of the medical history of these patients was obtained from hospital records, epilepsy monitoring reports, and outpatient clinic notes. Hospital IRB approval was obtained. The following data was collected age, sex, medical history, epilepsy and seizure types, location of seizure onset, number of antiepileptic drugs(AEDs)before and after surgery, AEDs failed, family history of cavernous malformations, genetic testing (CCM1/CCM2/KRIT1), perinatal and developmental history, results of MRI, EEG, epilepsy monitoring, history of surgical resection, and seizure frequency after surgery.Results: Four of eight patients had a documented family history of cavernous malformations: three from the maternal side, one from both maternal and paternal sides. The results of genetic testing were available for three patients. One patient was KRIT 1 positive, one was CCM1 positive, and one was both CCM1 positive and KRIT1 positive. Seven of eight patients were born full term, normal birth weight and showed no developmental delay. Where semiology was described, six out of eight had partial onset seizures, and five out of eight had generalized tonic-clonic seizures. Of the four patients that underwent video EEG monitoring, three had captured events. In all three patients, seizures were partial seizures with diffuse or poorly localized onset. Seven of eight underwent surgical resection of one or more cavernous malformation due to rupture or seizures. The median age at the time of surgery was 12 (range 2-15). After follow up of 2-6 years, three patients showed complete resolution of seizures off AEDs. Two patients continue to have seizures despite treatment with multiple AEDs. The last two patients were lost to follow up.Conclusions: Patients with the familial form of cavernous malformations typically are not developmentally delayed and, predictably, have partial onset seizures corresponding to their cavernous malformations. Although the EEG onset may be diffuse or poorly localizing, surgical resection of the most prominent or bleeding cavernous malformation is promising (60% (3 of 5 known outcome patients)) for complete resolution of epilepsy.