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Pediatric Case of Li–Fraumeni Syndrome in Honduras

Authors :
R. Martínez-Beckerat
C. Alas-Pineda
M. Melgar-Gonzales
B. Mejía-Raudales
N. Andino-Paz
S. Bejarano-Cáceres
J. Chiang
Source :
Case Reports in Pediatrics, Vol 2021 (2021)
Publication Year :
2021
Publisher :
Hindawi Limited, 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 :
Pediatrics
RJ1-570

Details

Language :
English
ISSN :
20906803 and 20906811
Volume :
2021
Database :
Directory of Open Access Journals
Journal :
Case Reports in Pediatrics
Publication Type :
Academic Journal
Accession number :
edsdoj.57419d719afb437289ed3d84bf45c4f2
Document Type :
article
Full Text :
https://doi.org/10.1155/2021/6612802