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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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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
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author Martínez-Beckerat, R.
Alas-Pineda, C.
Melgar-Gonzales, M.
Mejía-Raudales, B.
Andino-Paz, N.
Bejarano-Cáceres, S.
Chiang, J.
author_facet Martínez-Beckerat, R.
Alas-Pineda, C.
Melgar-Gonzales, M.
Mejía-Raudales, B.
Andino-Paz, N.
Bejarano-Cáceres, S.
Chiang, J.
author_sort Martínez-Beckerat, R.
collection PubMed
description 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.
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spelling pubmed-78149412021-01-26 Pediatric Case of Li–Fraumeni Syndrome in Honduras Martínez-Beckerat, R. Alas-Pineda, C. Melgar-Gonzales, M. Mejía-Raudales, B. Andino-Paz, N. Bejarano-Cáceres, S. Chiang, J. Case Rep Pediatr Case Report 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. Hindawi 2021-01-11 /pmc/articles/PMC7814941/ /pubmed/33505750 http://dx.doi.org/10.1155/2021/6612802 Text en Copyright © 2021 R. Martínez-Beckerat et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Martínez-Beckerat, R.
Alas-Pineda, C.
Melgar-Gonzales, M.
Mejía-Raudales, B.
Andino-Paz, N.
Bejarano-Cáceres, S.
Chiang, J.
Pediatric Case of Li–Fraumeni Syndrome in Honduras
title Pediatric Case of Li–Fraumeni Syndrome in Honduras
title_full Pediatric Case of Li–Fraumeni Syndrome in Honduras
title_fullStr Pediatric Case of Li–Fraumeni Syndrome in Honduras
title_full_unstemmed Pediatric Case of Li–Fraumeni Syndrome in Honduras
title_short Pediatric Case of Li–Fraumeni Syndrome in Honduras
title_sort pediatric case of li–fraumeni syndrome in honduras
topic Case Report
url 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
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