Epilepsy surgery in tuberous sclerosis complex (TSC): emerging techniques and redefinition of treatment goals

Treiber, Jeffrey M.; Curry, Daniel J.; Weiner, Howard L.; Roth, Jonathan

doi:10.1007/s00381-020-04715-2

Cited by 15 publications

(9 citation statements)

References 48 publications

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“…Epilepsy surgery should be considered for patients with refractory TSC, particularly after failing three medications. [114][115][116] Special consideration should be given to children at younger ages experiencing neurological regression, 117,118 and evaluation for surgery should be performed at specialized epilepsy centers with experience and expertise in TSC (Category 2A). Obtain an echocardiography every 1-3 years in asymptomatic pediatric patients until regression of cardiac rhabdomyomas is documented.…”

Section: Lungmentioning

confidence: 99%

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Northrup¹,

Aronow²,

Bebin³

et al. 2021

Pediatric Neurology

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359

305

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Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations. Methods: Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required. Results: Only two changes were made to clinical diagnostic criteria reported in 2013: "multiple cortical tubers and/or radial migration lines" replaced the more general term "cortical dysplasias," and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSCassociated neuropsychiatric disorders, and new medication approvals. Conclusions: Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families.

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Section: Lungmentioning

confidence: 99%

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Northrup¹,

Aronow²,

Bebin³

et al. 2021

Pediatric Neurology

Self Cite

359

305

View full text Add to dashboard Cite

show abstract

“…However, novel techniques are being developed, with the potential to expand the number of eligible patients, while reducing the risk of complications. 129 , 130 For example, magnetic resonance imaging (MRI)-guided laser interstitial thermal therapy (MRg-LITT) is a minimally invasive technique that uses heat emitted from a laser device, while the MRI enables real-time accurate monitoring of the thermal ablation process. Initial experiences of using MRg-LITT to identify and treat cortical tubers responsible for clinical seizures in TSC patients have reported seizure freedom in two out of three, 131 and three out of seven TSC patients.…”

Section: Non-pharmacologic Agentsmentioning

confidence: 99%

Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine

Schubert‐Bast

Strzelczyk

2021

Ther Adv Neurol Disord

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Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the target of rapamycin complex 1 (mTORC1) – a key mediator of cell growth and metabolism. TSC is characterised by the development of benign tumours in multiple organs, together with neurological manifestations including epilepsy and TSC-associated neuropsychiatric disorders (TAND). Epilepsy occurs frequently and is associated with significant morbidity and mortality; however, the management is challenging due to the intractable nature of the seizures. Preventative epilepsy treatment is a key aim, especially as patients with epilepsy may be at a higher risk of developing severe cognitive and behavioural impairment. Vigabatrin given preventatively reduces the risk and severity of epilepsy although the benefits for TAND are inconclusive. These promising results could pave the way for evaluating other treatments in a preventative capacity, especially those that may address the underlying pathophysiology of TSC, including everolimus, cannabidiol and the ketogenic diet (KD). Everolimus is an mTOR inhibitor approved for the adjunctive treatment of refractory TSC-associated seizures that has demonstrated significant reductions in seizure frequency compared with placebo, improvements that were sustained after 2 years of treatment. Highly purified cannabidiol, recently approved in the US as Epidiolex® for TSC-associated seizures in patients ⩾1 years of age, and the KD, may also participate in the regulation of the mTOR pathway. This review focusses on the pivotal clinical evidence surrounding these potential targeted therapies that may form the foundation of precision medicine for TSC-associated epilepsy, as well as other current treatments including anti-seizure drugs, vagus nerve stimulation and surgery. New future therapies are also discussed, together with the potential for preventative treatment with targeted therapies. Due to advances in understanding the molecular genetics and pathophysiology, TSC represents a prototypic clinical syndrome for studying epileptogenesis and the impact of precision medicine.

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“…This patient population presents unique challenges in epilepsy treatment and has known indications for surgery and laser ablation. [15][16][17][18][19][20][21][22] SWS has also been shown to be associated with increased rates of drug-refractory epilepsy. 23 Although there is no known pathophysiological relationship between NF and tethered cord, there seems to be a correlation between the two.…”

Section: Neurosurgerymentioning

confidence: 99%

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience

Grossen

Gavula

Chrusciel

et al. 2022

Neurosurgical Focus

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OBJECTIVE Neurocutaneous syndromes have variable multisystem involvement. The multiorgan involvement, potential pathologies, and various treatment options necessitate collaboration and open discussion to ensure optimal treatment in any given patient. These disorders provide quintessential examples of chronic medical conditions that require a lifelong, multidisciplinary approach. The objectives of this study were to 1) perform a systematic review, thoroughly assessing different multidisciplinary clinic layouts utilized in centers worldwide; and 2) characterize an institutional experience with the management of these conditions, focusing on the patient demographics, clinical presentation, complications, and therapeutic strategies seen in a patient population. METHODS A systematic review of studies involving multidisciplinary clinics and their reported structure was performed according to PRISMA guidelines using the PubMed database. Then a retrospective chart review of patients enrolled in the Oklahoma Children’s Hospital Neurocutaneous Syndromes Clinic was conducted. RESULTS A search of the PubMed database yielded 251 unique results. Of these, 15 papers were included in the analysis, which identified 16 clinics that treated more than 2000 patients worldwide. The majority of these clinics treated patients with neurofibromatosis (13/16). The remaining clinics treated patients with von Hippel–Lindau syndrome (n = 1), tuberous sclerosis complex (n = 1), and multiple neurocutaneous syndromes (n = 1). The most commonly represented subspecialties in these clinics were genetics (15/16) and neurology (13/16). Five clinics (31%) solely saw pediatric patients, 10 clinics saw a combination of children and adults, and the final clinic had separate pediatric and adult clinics. The retrospective chart review of the Neurocutaneous Syndromes Clinic demonstrated that 164 patients were enrolled and seen in the clinic from April 2013 to December 2021. Diagnoses were made based on clinical findings or results of genetic testing; 115 (70%) had neurofibromatosis type 1, 9 (5.5%) had neurofibromatosis type 2, 35 (21%) had tuberous sclerosis complex, 2 (1%) had von Hippel–Lindau syndrome, 2 (1%) had Gorlin syndrome, and the remaining patient (0.6%) had Aarskog-Scott syndrome. Patient demographics, clinical presentation, complications, and therapeutic strategies are also discussed. CONCLUSIONS To the best of the authors’ knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.

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Epilepsy surgery in tuberous sclerosis complex (TSC): emerging techniques and redefinition of treatment goals

Cited by 15 publications

References 48 publications

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience

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