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Pediatric Case of Li-Fraumeni Syndrome in Honduras.

R Martínez-BeckeratCésar Alas PinedaM Melgar-GonzalesBeatriz Mejía-RaudalesN Andino-PazSuyapa BejaranoJason Chiang
Published in: Case reports in pediatrics (2021)
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.
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