Current role of surgery for tuberous sclerosis complex‐associated epilepsy. Issue 1 (21st February 2022)

• Record Type: Journal Article
• Authors: Specchio, Nicola; Pavia, Giusy Carfi; de Palma, Luca; De Benedictis, Alessandro; Pepi, Chiara; Conti, Marta; Marras, Carlo Efisio; Vigevano, Federico; Curatolo, Paolo
• Is Part Of: Pediatric investigation. Volume 6:Issue 1(2022)
• Page Start: 16
• Page End: 22
• Publication Date: 2022-02-21
• Subjects: Epilepsy -- Everolimus -- Imaging -- Prognostics -- Surgery -- Tuberous sclerosis complex (TSC); Pediatrics -- Periodicals; Pediatrics -- Research -- Periodicals; 618.920005
• DOI: 10.1002/ped4.12312
• Languages: English
• ISSNs: 2574-2272

Abstract

ABSTRACT: Tuberous sclerosis complex (TSC) is a rare multisystem, autosomal dominant neurocutaneous syndrome in which epilepsy is the most common of several neurological and psychiatric manifestations. Around two thirds of patients develop drug‐resistant epilepsy for whom surgical resection of epileptogenic foci is indicated when seizures remain inadequately controlled following trial of two antiseizure medications. The challenge with presurgical and surgical approaches with patients with TSC is overcoming the complexity from the number of tubers and the multiplex epileptogenic network forming the epileptogenic zone. Data suggest that seizure freedom is achieved by 55%–60% of patients, but predictive factors for success have remained elusive, which makes for unconfident selection of surgical candidates. This article presents three different cases as illustrations of the potential challenges faced when assessing the suitability of TSC patients for epilepsy surgery. Abstract : Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non‐cancerous tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority and tending to cause more severe symptoms. Drug resistant epilepsy is very common in TSC patients. In some cases, an appropriate study with high field brain MR, scalp EEG and in selected patients Stereo‐EEG might be useful to detect. The epileptogenic tuber and propose a surgical approach to patients. Surgery in TSC patients might give a better long‐term outcome in term of seizure control and cognitive development.