Tuberous sclerosis, a case report

Authors

Keywords:

Tuberous Sclerosis, Neurocutaneous Syndromes, Heredodegenerative Disorders, Nervous System.

Abstract

Introduction: tuberous sclerosis is a chronic multisystem disorder with an autosomal dominant inheritance pattern, where the severity of symptoms and complications determine the prognosis in these patients.Case report: three-year-old, white skin female patient, who went to the on-call department of Jose Luis Miranda Provincial Pediatric Hospital because, according to her mother, she presented inattention and headaches. Questioning, physical examination and complementary tests were performed. Although the tests did not show any abnormality, a neurocutaneous syndrome (tuberous sclerosis) may be suspected in this patient. She is currently under periodic monitoring by the Neuropediatrics, Cardiology, Dermatology and Ophthalmology services.Conclusions: tuberous sclerosis is a neurocutaneous syndrome with systemic repercussions. Sometimes dermatologic lesions are the earliest form of presentation of the disease. Correct physical examination of the skin is necessary to reach a timely diagnosis of neurocutaneous syndromes. Because of its variation between subjects, mastery of the major and minor criteria is a requirement.

Downloads

References

1. Wilbur C, Sanguansermsri C, Chable H, Anghelina M, Peinhof S, Anderson K, et al. Manifestations of tuberous sclerosis complex: the experience of a provincial clinic. Can J NeurolSci[Internet]. 2017 [citado 01/05/2020]; 44(1):35-43.Disponible en: https://www.cambridge.org/core/journals/canadian-journal-of-neurological-sciences/article/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic/278112FB7E08C0A3267E9E9BB444DDF4/core-reader

2. Arango J, Delgado J, Saldarriaga W. Esclerosis tuberosa, diagnóstico fetal y materno. Revista chilena de obstetricia y ginecología[Internet]. 2015 [citado 01/05/2020]; 80(6):475-480. Disponible en: https://doi.org/10.4067/s071775262015000600007

3. Cammarata-Scalisi F, Stock F, Velazco N, Da Silva G, Lacruz-Rengel MA, Avendaño A. Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos. Boletín Médico del Hospital Infantil de México [Internet]. 2019 [citado 01/05/2020]; 75(5):287-94. Disponible en: https://doi.org/10.24875/bmhim.m18000035

4. Cammarata-Scalisi, F, Lacruz-Rengel, MA, Stock, F, Vidales, C, Callea, M. Aspectos clínicos y genéticos del complejo esclerosis tuberosa. Archivos Venezolanos de Puericultura y Pediatría [Internet]. 2017 [citado 01/05/2020]; 80(1):27-33. Disponible en: https://www.redalyc.org/articulo.oa?id=367951839007

5. Núñez E, Bonilla Y, Varela D. Actualización de métodos diagnósticos en el Complejo de Esclerosis Tuberosa. Rev Mex Neuroci [Internet]. 2016 [citado 01/05/2020];17(4):86-95. Disponible en: https://www.medigraphic.com/pdfs/revmexneu/rmn-2016/rmn164j.pdf

6. Avgeris S, Fostira F, Vagena A, Ninios Y, Delimitsou A, Vodicka R, et al. Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. SciRep[Internet]. 2017 [citado 01/05/2020]; 7(1):16697. Disponible en: https://www.nature.com/articles/s41598-017-16988-w

7. Gómez-Cerdas MT, Vargas-Morales JA. Esclerosis tuberosa. Revista Médica Sinergia [Internet]. 2019 [citado 01/05/2020]; 4(3):21-37. Disponible en: https://revistamedicasinergia.com/index.php/rms/article/view/182/446

8. Hodgson N, Kinori M, Goldbaum MH, Robbins SL. Ophthalmic manifestations of tuberoussclerosis: a review. Clin Exp Ophthalmol [Internet]. 2017 [citado 01/05/2020]; 45(1):81-86. Disponible en: https://onlinelibrary.wiley.com/doi/epdf/10.1111/ceo.12806

9. Northrup H, Krueger DA, Northrup H, Krueger DA, Roberds S, Smith K, et al. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology [Internet]. 2013 [citado 01/05/2020]; 49(4):243-54. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080684/

10. De Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. PediatrNeurol [Internet]. 2015 [citado 01/05/2020]; 52(1):25-35. Disponible en: https://www.pedneur.com/article/S0887-8994(14)00602-X/fulltext

11. Monteiro T, Garrido C, Piña S. Esclerosis Tuberosa: caracterización clínica e intento de correlación fenotipo/genotipo. Anales de pediatría [Internet]. 2014 [citado 01/05/2020]; 81(5): 289-296. Disponible en: https://www.analesdepediatria.org/es-esclerosis-tuberosa-caracterizacion-clinica-e-articulo-S1695403314001751

12. Jacks SK,Witman PM.Tuberous Sclerosis Complex: An Update for Dermatologists. Pediatr Dermatol [Internet]. 2015 [citado 01/05/2020]; 32(5):563-70. Disponible en: https://doi.org/10.1111/pde.12567

13. Salgado AG, Belaunzarán A, Gandini A. Esclerosis Tuberosa: hallazgos radiológicos en SNC y riñones: a propósito de un caso. Rev HPC [Internet]. 2013 [citado 01/05/2020];16(1):25-28. Disponible en: https://hpc.org.ar/wp-content/uploads/905-6-Salgado1.pdf

14. Savío Benavides A, Oliva Rodríguez J, García Morejón C, García Guevara C, Arencibia Faire J, Ponce Bittar J. Diagnóstico ecocardiográfico de los tumores primarios del corazón en el feto. Revista Cubana de Pediatría [Internet]. 2009 [citado 01/05/2020];81(4):1-9. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312009000400001

15. Pineda-Bocanegra JL, Velásquez-Cantillo KL, Maestre-Serrano R, Santiago-Henríquez EA. Linfangioleiomiomatosis pulmonar, una rara enfermedad pulmonar: presentación de un caso clínico. Revista chilena de enfermedades respiratorias [Internet]. 2019[citado 01/05/2020];35(1):58-62. Disponible en: https://scielo.conicyt.cl/scielo.php?pid=S0717-73482019000100058&script=sci_arttext&tlng=p

16. Zito C, Daud R, Nejamkin D, Peguino E, Leguia M. Hamartoma de células astrocíticas en paciente con esclerosis tuberosa. RevHosp El Cruce [Internet]. 2018[citado 01/05/2020];2017(21):51-5. Disponible en: https://pesquisa.bvsalud.org/portal/resource/pt/biblio-915436

Published

2020-08-05

How to Cite

1.
Pedraza-Rodríguez EM, González-Velázquez VE, Villar-Gacives DA, Alba-Pacheco Y. Tuberous sclerosis, a case report. Univ. Méd. Pinareña [Internet]. 2020 Aug. 5 [cited 2025 Apr. 27];17(2):e586. Available from: https://revgaleno.sld.cu/index.php/ump/article/view/586

Issue

Section

Case report

Most read articles by the same author(s)