Mehdi Chihi, Oliver Gembruch, Marvin Darkwah Oppong, Bixia Chen, Thiemo Florin Dinger, Lennart Barthel, Daniela Pierscianek, Karsten H. Wrede, Neriman Özkan, Ulrich Sure and Ramazan Jabbarli
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease. Arterial wall developmental disorders, such as aneurysms, in association with TSC have been well described for extracranial vasculature. The characteristics of intracranial aneurysms (IAs) in TSC have not previously been addressed in the literature. This systematic review was performed to identify and assess the distinct characteristics of IAs in patients with TSC.
The authors searched PubMed, Scopus, and Web of Science for publications describing cases of TSC and IA reported before August 7, 2018. They also report 2 cases of IAs in TSC patients treated at their own institution.
Thirty-three TSC patients with a total of 42 IAs were included in this review. Three individuals presented with subarachnoid hemorrhage. The IAs were large or giant in 57.1% and fusiform in 45.2% of the cases. Most of the IAs (61.9%, 26 of 42) originated from the internal carotid artery. There was a higher prevalence of pediatric cases (66.7%) and male patients (63.6%, 21 of 32 individuals with known sex) among the collected series.
TSC patients with IAs are characterized with a higher proportion of large/giant and fusiform IAs and young age, suggesting rapid aneurysmal growth. Furthermore, there is a distinct location pattern of IAs and an inverse sex ratio than in the healthy population. Large population-based patient registers are required to improve the understanding of epidemiology and pathophysiology of IA formation in TSC.
Philipp Dammann, Karsten Wrede, Ramazan Jabbarli, Salome Neuschulte, Katja Menzler, Yuan Zhu, Neriman Özkan, Oliver Müller, Michael Forsting, Felix Rosenow and Ulrich Sure
The aim of this study was to determine seizure outcome, functional outcome, and the withdrawal of antiepileptic drugs (AEDs) after conservative or surgical treatment of patients with new-onset cavernoma-related epilepsy (CRE).
The authors conducted a retrospective comparative observational study of 79 consecutive patients, each with a single sporadic cerebral cavernous malformation (CCM) and new-onset CRE.
Forty-one patients underwent initial surgery (IS), and 38 patients underwent initial conservative (IC) treatment. Of those in the latter group, 19 underwent delayed surgical (DS) treatment. At the last follow-up, 88%, 32%, and 79% of patients in the respective groups had been seizure free for at least 2 years (International League Against Epilepsy [ILAE] Class 1; IS vs IC, p < 0.0001) and 78%, 8%, and 58%, respectively, had been off AEDs (IS vs IC, p < 0.0001). The cumulative probability of staying seizure free (ILAE Class 1) during a 5-year period was 73% (mean seizure-free follow-up 49.8 ± 2.7 months, 95% CI 44.4–55.1 months) for the IS group, 22% (mean 31.8 ± 3.6 months, 95% CI 24.8–38.8 months) for the IC group, and 68% (mean 48.6 ± 4.3 months, 95% CI 40.1–57.1 months) for the DS group (IS vs IC p < 0.001). Long-term operative morbidity was 3%, and long-term morbidity in the conservatively treated group was also 3%.
Patients with CCM and new-onset CRE who underwent IS treatment showed better results in seizure control and the discontinuation of AEDs than the conservatively treated patients. Operative morbidity was comparable to the morbidity from symptomatic CCM hemorrhage in the conservative group. Half of the patients who started with conservative treatment underwent subsequent surgical treatment; however, a longer duration of epilepsy prior to surgery did not worsen postoperative seizure outcome.