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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,...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
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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. |
format | Online Article Text |
id | pubmed-7814941 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
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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