Silvana Penco, Rachele Ratti, Elena Bianchi, Alberto Citterio, Maria Cristina Patrosso, Alessandro Marocchi, Laura Tassi, Alessandro La Camera and Massimo Collice
The purpose of this study was to underline the effectiveness of molecular analysis in cerebral cavernous angioma, with special attention to the familial forms.
Multiplex Ligation-dependent Probe Amplification analysis integrates the consecutive sequence analysis of the 3 genes (Krit1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) known to be responsible for cerebral cavernous malformation lesions.
The Multiplex Ligation-dependent Probe Amplification analysis revealed a new mutation, a heterozygous exon 9/10 deletion of Krit1, in the proband and in all affected family members.
The identification of the molecular defect allows physicians to screen family members at risk and to identify affected individuals before the onset of clinical symptoms caused by the presence of lesions.
Massimo Cossu, Dalila Fuschillo, Giuseppe Casaceli, Veronica Pelliccia, Laura Castana, Roberto Mai, Stefano Francione, Ivana Sartori, Francesca Gozzo, Lino Nobili, Laura Tassi, Francesco Cardinale and Giorgio Lo Russo
Radiofrequency thermocoagulation (RF-TC) of presumed epileptogenic lesions and/or structures has gained new popularity as a treatment option for drug-resistant focal epilepsy, mainly in patients with mesial temporal lobe epilepsy. The role of this minimally invasive procedure in more complex cases of drug-resistant epilepsy, which may require intracranial electroencephalographic evaluation, has not been fully assessed. This retrospective study reports on a case series of patients with particularly complex focal epilepsy who underwent stereoelectroencephalography (SEEG) evaluation with stereotactically implanted multicontact intracerebral electrodes for the detailed identification of the epileptogenic zone (EZ) and who received RF-TC in their supposed EZ (according to SEEG findings).
Eighty-nine patients (49 male and 40 female; age range 2–49 years) who underwent SEEG evaluation and subsequent RF-TC of the presumed EZ at the authors' institution between January 2008 and December 2013 were selected. Brain MRI revealed structural abnormalities in 43 cases and no lesions in 46 cases. After SEEG, 67 patients were judged suitable for resective surgery (Group 1), whereas surgery was excluded for 22 patients (Group 2). Thermocoagulation was performed in each of these patients by using the previously implanted multicontact recording electrodes and delivering RF-generated currents to adjacent electrode contacts.
The mean number of TC sites per patient was 10.6 ± 7.2 (range 1–33). Sustained seizure freedom occurred after TC in 16 patients (18.0%) (13 in Group 1 and 3 in Group 2). A sustained worthwhile improvement was reported by 9 additional patients (10.1%) (3 in Group 1 and 6 in Group 2). As a whole, 25 patients (28.1%) exhibited a persistent significant improvement in their seizures. More favorable results were observed in patients with nodular heterotopy (p = 0.0001389), those with a lesion found on MRI (not significant), and those with hippocampal sclerosis (not significant). Other variables significantly correlated to seizure freedom were the patient's age (p = 0.02885) and number of intralesional TC sites (p = 0.0271). The patients in Group 1 who did not benefit at all (21 patients) or who experienced only a transient benefit (30 patients) from TC underwent microsurgical resection of their EZ. Thermocoagulation was followed by severe permanent neurological deficits in 2 patients (an unexpected complex neuropsychological syndrome in one patient and an expected and anticipated permanent motor deficit in the other).
This study provides evidence that SEEG-guided TC in the EZ may be a treatment option for particularly complex drug-resistant focal epilepsy that requires invasive evaluation. A small subset of patients who achieve seizure freedom or worthwhile improvement may avoid open surgery or take advantage of an otherwise unexpected treatment if resection is not an option. Patients with epileptogenic nodular heterotopy are probably ideal candidates for this treatment.
Veronica Pelliccia, Francesco Deleo, Francesca Gozzo, Ivana Sartori, Roberto Mai, Massimo Cossu and Laura Tassi
Epilepsy surgery is an effective means of treating focal epilepsy associated with long-term epilepsy-associated tumors. This study evaluated a large population of surgically treated patients with childhood onset of epilepsy and a histologically confirmed diagnosis of long-term epilepsy-associated tumors. The authors analyzed long-term seizure outcomes to establish whether the time of surgery and patients' ages were determinant factors.
The authors separately investigated several presurgical, surgical, and postsurgical variables in patients operated on before (pediatric group) and at or after (adult group) the age of 18 years. Patients with < 24 months of postsurgical follow-up were excluded from the analysis.
The patients who underwent surgery before 18 years of age showed better seizure outcomes than those after 18 years of age (80% vs 53.3% Engel Class Ia outcome, respectively; p < 0.001). Multivariate analysis showed that the only variables significantly associated with seizure freedom were complete resection of the lesion, a shorter duration of epilepsy, and temporal lobe resection.
The findings of this study indicate that pediatric patients are more responsive to epilepsy surgery and that a shorter duration of epilepsy, complete resection, and a temporal lobe localization are determinant factors for a positive seizure outcome.