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Pediatric Case of Li–Fraumeni Syndrome in Honduras

Authors :
Martínez-Beckerat, R.
Alas-Pineda, C.
Melgar-Gonzales, M.
Mejía-Raudales, B.
Andino-Paz, N.
Bejarano-Cáceres, S.
Chiang, J.
Source :
Case Reports in Pediatrics.
Publication Year :
2021
Publisher :
Hindawi, 2021.

Abstract

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.

Subjects

Subjects :
Article Subject

Details

Language :
English
ISSN :
20906803
Database :
OpenAIRE
Journal :
Case Reports in Pediatrics
Accession number :
edsair.hindawi.publ..6bda3c6401e82997b9afa6ca7f3d9801
Full Text :
https://doi.org/10.1155/2021/6612802