Late diagnosis of tuberous sclerosis: a case report.

Autor: Domínguez-Valdez LF; Departamento de Medicina Interna, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., Hernández-Utrera JE; Departamento de Medicina Interna, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., Chávez-Sánchez IN; Departamento de Medicina Interna, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., Peralta-Amaro AL; Departamento de Medicina Interna, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., Talin-Bosquez MJ; Departamento de Cardiología, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., García-Pedraza LA; Departamento de Medicina Interna, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., Hernández-Jiménez CA; Departamento de Medicina Interna, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., Delgado-Carmona DK; Departamento de Medicina Interna, UMAE Hospital de Especialidades 'Dr. Antonio Fraga Mouret', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico., Gracia-Ramos AE; Departamento de Medicina Interna, UMAE Hospital General 'Dr. Gaudencio González Garza', Centro Médico Nacional 'La Raza', Instituto Mexicano del Seguro Social, Mexico City, Mexico.; Sección de Estudios de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Mexico City, Mexico.
Jazyk: angličtina
Zdroj: Oxford medical case reports [Oxf Med Case Reports] 2023 Apr 20; Vol. 2023 (4), pp. omad029. Date of Electronic Publication: 2023 Apr 20 (Print Publication: 2023).
DOI: 10.1093/omcr/omad029
Abstrakt: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in organ systems such as the brain, skin, kidneys and lungs. Patients with TSC are usually diagnosed early in life. However, in some cases, the diagnosis is delayed until adulthood because various manifestations occur at various times throughout an individual's life. In this regard, we present the case of a female patient diagnosed at the beginning of the seventh decade of life. The patient had a history of seizures and showed clinical findings on the skin (facial angiofibromas, ungual fibromas, 'Confetti-like' skin lesions, shagreen patch), brain (cortical tubers), heart (cardiac rhabdomyomas), kidneys (angiomyolipomas) and a positive genetic test for mutations in TSC2, fulfilling the diagnostic criteria. We compared the differences between manifestations in patients diagnosed during childhood and adulthood. Knowledge of the clinical spectrum of TSC allows early identification.
Competing Interests: None declared.
(© The Author(s) 2023. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
Databáze: MEDLINE
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