Callosotomía en Esclerosis Tuberosa, a propósito de un caso

Dilia Judith Mosquera Jimenez

Texto completo:

PDF

Resumen

Introducción: La cirugía de epilepsia se ha constituido como una herramienta fundamental para los pacientes con epilepsias refractarias a medicamentos. Este es el caso de los pacientes con esclerosis tuberosa; los cuales suelen presentar tubers  en múltiples localizaciones cerebrales que limitan la realización de cirugía de resección focal. La callosotomía surge como una alternativa; esta cirugía paliativa ha conseguido una reducción significativa en el número de crisis, mejoría en las funciones cognitivas y del comportamiento, principalmente en pacientes sin hallazgos imagenológicos o etiología definida.

Objetivo: Mostrar que la ausencia de factores predictivos típicos de buena respuesta a la cirugía paliativa no excluye la posibilidad de obtener resultados favorables en pacientes con otras características.

Presentación del caso: Paciente con diagnóstico de esclerosis tuberosa con múltiples tubers y epilepsia refractaria a medicamentos, quien fue llevado a callosotomía total con posquirúrgico satisfactorio; se evidenció una mejoría significativa en el control de crisis y en la calidad de vida del paciente y su núcleo familiar.

Conclusiones: La callosotomía como procedimiento paliativo, a pesar de sus limitaciones, puede impactar en el nivel de control de crisis de epilepsia no solo en pacientes con foco único sino también en pacientes con múltiples tubers.

Palabras clave

Callosotomía; Esclerosis tuberosa; epilepsia

Referencias

Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, et al. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genet Med [Internet]. 2020 [cited 2023 Jan 26]; 22(9):1489-97. Available from: https://www.sciencedirect.com/science/article/pii/S1098360021007152?via%3Dihub

Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex. Annu Rev Genomics Hum Genet [Internet]. 2019 [cited 2023 Jan 26];20:217-40. Available from: https://www.annualreviews.org/doi/10.1146/annurev-genom-083118-015354?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed

Fallah A, Wang S. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat [Internet]. 2014 [cited 2023 Jan 26];10:2021-30. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211915/pdf/ndt-10-2021.pdf

Scrigni AV, Bottero A, Bosaleh A, Aisenberg N, Paglia M, Manfrin L, et al. Bowel obstruction by hamartomatous polyp in a pediatric patient with tuberous sclerosis. Arch Argent Pediatr [Internet]. 2017[cited 2023 Jan 26];115(3):e15761. Available from: https://www.sap.org.ar/docs/publicaciones/archivosarg/2017/v115n3a18.pdf

Markosian C, Patel S, Kosach S, Goodman RR, Tomycz LD. Corpus callosotomy in the modern era: Origins, efficacy, technical variations, complications, and indications. World Neurosurg [Internet]. 2022 [cited 2023 Jan 26];159:14655. Available from: https://www.sciencedirect.com/science/article/pii/S1878875022000407?via%3Dihub

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, et al. Updated International tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol [Internet]. 2021 [cited 2023 Jan 26];123:5066. Available from: https://reader.elsevier.com/reader/sd/pii/S088789942100151X?token=C02009E3929CD270EEEB85EC71ADCEBFF1EC992C38156BA0CB429615782A4DBBE368812D0BC90E98DD2D04AB8F1EC89C&originRegion=us-east-1&originCreation=20230308154039

Lu DS, Karas PJ, Krueger DA, Weiner HL. Central nervous system manifestations of tuberous sclerosis complex. Am J Med Genet C Semin Med Genet [Internet]. 2018 [cited 2023 Jan 26];178(3):2918. Available from: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31647

Karenfort M, Kruse B, Freitag H, Pannek H, Tuxhorn I. Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex. Neuropediatrics [Internet]. 2002 [cited 2023 Jan 26];33(5):25561. Available from: https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-2002-36740

De Ridder J, Lavanga M, Verhelle B, Vervisch J, Lemmens K, Kotulska K, et al. Prediction of neurodevelopment in infants with tuberous Sclerosis Complex using early EEG characteristics. Front Neurol [Internet]. 2020 [cited 2023 Jan 26];11. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7596378/pdf/fneur-11-582891.pdf

Canevini MP, Kotulska-Jozwiak K, Curatolo P, La Briola F, Peron A, Słowińska M, et al. Current concepts on epilepsy management in tuberous sclerosis complex. Am J Med Genet C Semin Med Genet [Internet]. 2018 [cited 2023 Jan 26];178(3):299–308. Available from: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31652

Vignoli A, Briola FL, Turner K, Scornavacca G, Chiesa V, Zambrelli E, et al. Epilepsy in TSC: Certain etiology does not mean certain prognosis. Epilepsia [Internet]. 2013 [cited 2023 Jan 26];54(12):213442. Available from: https://onlinelibrary.wiley.com/doi/10.1111/epi.12430

Benova B, Belohlavkova A, Jezdik P, Jahodová A, Kudr M, Komarek V, et al. Cognitive performance in distinct groups of children undergoing epilepsy surgery-a single-centre experience. PeerJ [Internet]. 2019 [cited 2023 Jan 26];7(e7790):e7790. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788437/pdf/peerj-07-7790.pdf

Jeong A, Nakagawa JA, Wong M. Predictors of drug-resistant epilepsy in tuberous sclerosis complex. J Child Neurol [Internet]. 2017 [cited 2023 Jan 26];32(14):10928. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773119/pdf/nihms909782.pdf

Maehara T, Shimizu H. Surgical outcome of corpus callosotomy in patients with drop attacks. Epilepsia [Internet]. 2001 [cited 2023 Jan 26];42(1):6771. Available from: https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0013-9580&date=2001&volume=42&issue=1&spage=67

Okanishi T, Fujimoto A, Okanari K, Baba S, Ichikawa N, Nishimura M, et al. Corpus callosotomy for drug-resistant spasms associated with tuberous sclerosis complex. Epilepsy Behav [Internet]. 2019 [cited 2023 Jan 26];98(Pt A):22832. Available from: https://www.sciencedirect.com/science/article/abs/pii/S1525505019303415?via%3Dihub

Iwasaki M, Uematsu M, Sato Y, Nakayama T, Haginoya K, Osawa S-I, et al. Complete remission of seizures after corpus callosotomy: Clinical article. J Neurosurg Pediatr [Internet]. 2012 [cited 2023 Jan 26];10(1):713. Available from: https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/10/1/article-p7.xml

Mulder FVM, Peeters EFHI, Westerink J, Zwartkruis FJT, de Ranitz-Greven WL. The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from the Dutch TSC registry. Orphanet J Rare Dis [Internet]. 2022 [cited 2023 Jan 26];17(1). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9264703/pdf/13023_2022_Article_2385.pdf

Samanta D. A scoping review on cannabidiol therapy in tuberous sclerosis: Current evidence and perspectives for future development. Epilepsy Behav [Internet]. 2022 [cited 2023 Jan 26];128. Available from: https://www.sciencedirect.com/science/article/abs/pii/S1525505022000269?via%3Dihub

Brigo F, Olivo S. Cannabidiol for seizures in tuberous sclerosis complex: Still more questions than answers? Epilepsy Behav [Internet]. 2022 [cited 2023 Jan 26];132. Available from: https://www.sciencedirect.com/science/article/abs/pii/S1525505022001500?via%3Dihub

Specchio N, Pepi C, de Palma L, Moavero R, De Benedictis A, Marras CE, et al. Surgery for drug-resistant tuberous sclerosis complex-associated epilepsy: who, when, and what. Epileptic Disord [Internet]. 2021 [cited 2023 Jan 26];23(1):5373. Available from: https://www.jle.com/fr/revues/epd/e-docs/surgery_for_drug_resistant_tuberous_sclerosis_complex_associated_epilepsy_who_when_and_what_319677/article.phtml?tab=resume

Enlaces refback

  • No hay ningún enlace refback.


Copyright (c) 2023 El autory garantizarán a la revista el derecho de primera publicación de su obra

Licencia de Creative Commons
Esta obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-CompartirIgual 4.0 Internacional.