Epilepsy surgery in tuberous sclerosis: a review

Evans, Linton T.; Morse, Richard P.; Roberts, David W.

doi:10.3171/2012.1.focus11330

Cited by 41 publications

(39 citation statements)

References 35 publications

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“…An estimated 80-90% of patients with TSC have epilepsy, the majority of which are refractory to anti-epileptic medication 1 . Nearly half of patients with TSC have below-normal IQ, and $30% of patients have profound intellectual disability 2,3 .…”

Section: Introductionmentioning

confidence: 99%

Kidney involvement in tuberous sclerosis complex: the impact on healthcare resource use and costs

Vekeman

Magestro

Karner

et al. 2015

Journal of Medical Economics

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Objective: Tuberous sclerosis complex (TSC) is associated with non-malignant kidney lesions-angiomyolipomatathat may be associated with chronic kidney disease (CKD). This study investigated the relationship between renal angiomyolipomata and CKD in TSC, including the impact on healthcare resource utilization (HCRU) and costs. Methods:This was a retrospective, longitudinal cohort study based on medical record data spanning January 1990-April 2012 for 369 TSC patients treated at a specialty center in the Netherlands. Cohorts were established based on CKD stage and angiomyolipoma size. Rates of HCRU (physician visits, monitoring, and interventions) were compared across cohorts using rate ratios. Healthcare costs were compared across cohorts using cost differences. Regression models were used to identify predictive factors for HCRU and healthcare costs. Results:Sixteen per cent of patients reached CKD stage 3 or higher during follow-up. Patients at more advanced stages of CKD more frequently had either large or multiple small angiomyolipomata and higher HCRU rates and healthcare costs. In the multivariate analyses, male gender, CKD stage 41, angiomyolipoma size !3.5 cm, embolization, and the presence of moderate or severe lymphangioleiomyomatosis (LAM) were associated with greater HCRU (p 0.002 for all comparisons). Definite (vs suspected) TSC diagnosis, CKD stage 5 (vs CKD stage 1), angiomyolipoma size !3.5 cm, and moderate or severe LAM were associated with higher costs (p ¼ 0.050 for TSC diagnosis, p 0.002 for other comparisons). Costs in CKD stage 5 were driven primarily by dialysis. Conclusions:A substantial proportion of patients with TSC developed moderate-to-severe CKD, which was associated with renal angiomyolipomata and increased HCRU and costs.

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Section: Introductionmentioning

confidence: 99%

Kidney involvement in tuberous sclerosis complex: the impact on healthcare resource use and costs

Vekeman

Magestro

Karner

et al. 2015

Journal of Medical Economics

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“…A Esclerose Tuberosa (ET) é uma facomatose familial, autossômica dominante, com variável penetrância hereditária, devido a provável lesão nos cromossomos 9 e 16 (genes TSC 1 e TSC 2, respectivamente), levando a alteração da codificação das proteínas tuberina e hamartina 1,5 . A tríade clássica de epilepsia, retardo mental e angiofibromatose facial permitia o diagnóstico clínico de ET.…”

Section: Discussionunclassified

“…Cerca de 80-90% dos indivíduos acometidos pela ET apresentam episódios convulsivos durante o curso da doença, sendo epilepsia a manifestação inicial em 90% dos casos 1 .…”

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Esclerose Tuberosa – Relato de Caso

Carbonera

Lajús

Rodrigues³

2013

RNC

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RESUMOObjetivo. Relatar caso de Esclerose Tuberosa na infância. Método. Revisão nas bases de dados e bibliotecas digitais em comparação ao relato de caso. Resultados. A Esclerose Tuberosa (ET) é uma doença autossômica dominante que leva a formação de hamartomas em múltiplos órgãos. Entre 80-90% dos indivíduos acometidos pela ET apresentam episódios convulsivos durante o curso da doença, sendo epilepsia a manifestação inicial em 90% dos casos. Paciente do sexo feminino, com 2 anos e 1 mês de idade, apresentou máculas hipopigmentadas em regiões lateral direita de abdome, infrapatelar direita, inguinal esquerda e infraoccipital esquerda, e minúsculos nódulos eritematosos em região malar e dorso de nariz. Aos 4 anos apresentou o primeiro episódio convulsivo, associado a atraso no desenvolvimento neuropsicomotor. Exame de imagem demonstrou nódulos subependimários, sugerindo quadro de ET na infância. Em tratamento com fenitoína para as crises convulsivas, com remissão dos sintomas. Conclusões. A paciente apresentou as duas características mais comuns da ET -máculas hipopigmentadas e episódios convulsivos. O tratamento para as máculas é a sua ressecção cirúrgica. A fenitoína, em contraste com a literatura, obteve sucesso no controle dos episódios. Sugere-se aconselhamento genético devido ao caráter autossômico dominante, e ao fato de 85% das gestações serem frustras. Unitermos. Esclerose Tuberosa, Epilepsia, Síndromes Neurocutâneas.Citação. Carbonera LA, Lajús JAS, Rodrigues CFA. Esclerose Tuberosa -Relato de Caso. ABSTRACTObjective. Report a case of Tuberous Sclerosis on childhood. Method. Database research and comparison with the case report. Results. Tuberous Sclerosis (TS) is an autosomal dominant disease that leads to the formation of hamartomas in multiple organs. From 80 to 90% of individuals affected by TS present seizures during the disease, and seizures are the first clinical sign in 90% of the cases. This female patient, aged 2 years 1 month, presented hypopigmented macules on right abdomen, right infrapatellar, left inguinal and left infraoccipital areas, as well as little erythematous nodules on the cheek and nose. Presented the first seizure at 4 years-old, associated to impaired neuropsychomotor development. Imaging exams demonstrated subependimal nodules, suggesting a diagnosis of TS on childhood. The patient is being treated with phenytoin for seizures, obtaining control of the symptoms. Conclusions. The patient presented the two most common characteristics of TS -hypopigmented macules and seizures. The treatment for the macules is surgical resection. The Phenytoin, in opposition to the literature, succeeded in control of seizures. Genetic counseling is suggested due to the autosomal dominant expression and to the fact of 85% of the cases resulting in abortion.

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“…Epilepsy develops in 80%-90% of these patients, in some as early as infancy (29,30), and the epilepsy becomes intractable in 50%-80% of cases. Because intractable seizures have a detrimental effect on neurocognitive development, these patients can potentially benefit from early epilepsy surgery (31).…”

Section: Tuberous Sclerosismentioning

confidence: 99%

The Role of Radionuclide Imaging in Epilepsy, Part 2: Epilepsy Syndromes

Kumar

Chugani

2017

J. Nucl. Med. Technol.

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CE credit: For CE credit, you can access the test for this article, as well as additional JNMT CE tests, online at https://www.snmmilearningcenter.org. Complete the test online no later than March 2020. Your online test will be scored immediately. You may make 3 attempts to pass the test and must answer 80% of the questions correctly to receive 1.0 CEH (Continuing Education Hour) credit. SNMMI members will have their CEH credit added to their VOICE transcript automatically; nonmembers will be able to print out a CE certificate upon successfully completing the test. The online test is free to SNMMI members; nonmembers must pay $15.00 by credit card when logging onto the website to take the test.PET and SPECT can play an important role in the evaluation of various epileptic syndromes, particularly those with unknown causes, by revealing various underlying abnormalities that may not be fully appreciated from MR imaging studies. In some cases, PET and SPECT provide crucial data that guide surgical resections of the epileptogenic zone for medically refractory epilepsy. In other cases, these neuroimaging modalities preclude a surgical option and can guide genetic studies. Longitudinal PET and SPECT studies may increase our understanding of the etiopathogenesis of epilepsy syndromes and provide a clearer picture of the natural history of neurologic progression.

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Epilepsy surgery in tuberous sclerosis: a review

Cited by 41 publications

References 35 publications

Kidney involvement in tuberous sclerosis complex: the impact on healthcare resource use and costs

Kidney involvement in tuberous sclerosis complex: the impact on healthcare resource use and costs

Esclerose Tuberosa – Relato de Caso

The Role of Radionuclide Imaging in Epilepsy, Part 2: Epilepsy Syndromes

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