Pediatric Case of Li–Fraumeni Syndrome in Honduras
Author(s) -
Roxana Martínez,
César AlasPineda,
M. Melgar-Gonzales,
Beatriz Mejía-Raudales,
N. Andino-Paz,
Suyapa Bejarano,
Jason Chiang
Publication year - 2021
Publication title -
case reports in pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2090-6803
pISSN - 2090-6811
DOI - 10.1155/2021/6612802
Subject(s) - medicine , choroid plexus , ventricle , vomiting , li–fraumeni syndrome , disease , gait disturbance , headaches , pediatrics , surgery , germline mutation , mutation , gene , genetics , physical medicine and rehabilitation , central nervous system , biology
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom