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Pediatric Case of Li–Fraumeni Syndrome in Honduras

Li–Fraumeni syndrome is an inherited, autosomal dominant disease. It is categorized as a rare disease caused by mutations of the TP53 gene, which causes increased susceptibility of the patients and their children to many types of cancer. Choroid plexus tumor is rare, which occurs in 0.3 cases per 1,...

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Detalles Bibliográficos
Autores principales: Martínez-Beckerat, R., Alas-Pineda, C., Melgar-Gonzales, M., Mejía-Raudales, B., Andino-Paz, N., Bejarano-Cáceres, S., Chiang, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814941/
https://www.ncbi.nlm.nih.gov/pubmed/33505750
http://dx.doi.org/10.1155/2021/6612802
Descripción
Sumario:Li–Fraumeni syndrome is an inherited, autosomal dominant disease. It is categorized as a rare disease caused by mutations of the TP53 gene, which causes increased susceptibility of the patients and their children to many types of cancer. Choroid plexus tumor is rare, which occurs in 0.3 cases per 1,000,000 people, of which 40% turn out to be carcinomas. We present a 12-year-old boy with a history of worsening headaches of more than one month, gait disturbance, projectile vomiting, and right hemiparesis. An intraventricular tumor was identified in the occipital of the left lateral ventricle, which turned out to be a TP53-mutant choroidal plexus carcinoma.