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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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2021/6612802 |
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| author | R. Martínez-Beckerat C. Alas-Pineda M. Melgar-Gonzales B. Mejía-Raudales N. Andino-Paz S. Bejarano-Cáceres J. Chiang |
| author_facet | R. Martínez-Beckerat C. Alas-Pineda M. Melgar-Gonzales B. Mejía-Raudales N. Andino-Paz S. Bejarano-Cáceres J. Chiang |
| author_sort | R. Martínez-Beckerat |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-57419d719afb437289ed3d84bf45c4f2 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-57419d719afb437289ed3d84bf45c4f22025-02-03T05:49:18ZengWileyCase Reports in Pediatrics2090-68032090-68112021-01-01202110.1155/2021/66128026612802Pediatric Case of Li–Fraumeni Syndrome in HondurasR. Martínez-Beckerat0C. Alas-Pineda1M. Melgar-Gonzales2B. Mejía-Raudales3N. Andino-Paz4S. Bejarano-Cáceres5J. Chiang6Hospital Nacional Dr. Mario Catarino Rivas, San Pedro Sula, Cortés 21102, HondurasHospital Nacional Dr. Mario Catarino Rivas, San Pedro Sula, Cortés 21102, HondurasHospital Nacional Dr. Mario Catarino Rivas, San Pedro Sula, Cortés 21102, HondurasFacultad de Medicina y Cirugía, Universidad Católica de Honduras-Campus San Pedro y San Pablo, San Pedro Sula, Cortés 21102, HondurasUniversidad Nacional Autónoma Honduras en el Valle de Sula, Escuela Universitaria de las Ciencias de la Salud, San Pedro Sula 21102, HondurasLiga Contra el Cáncer de Honduras, San Pedro Sula, Cortés 21104, HondurasDepartment of Pathology, St. Jude Children’s Research Hospital, Memphis, TN 38105, USALi–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.http://dx.doi.org/10.1155/2021/6612802 |
| spellingShingle | R. Martínez-Beckerat C. Alas-Pineda M. Melgar-Gonzales B. Mejía-Raudales N. Andino-Paz S. Bejarano-Cáceres J. Chiang Pediatric Case of Li–Fraumeni Syndrome in Honduras Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2021/6612802 |
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