Pediatric Case of Li-Fraumeni Syndrome in Honduras.
R Martínez-BeckeratCésar Alas PinedaM Melgar-GonzalesBeatriz Mejía-RaudalesN Andino-PazSuyapa BejaranoJason ChiangPublished 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.
Keyphrases
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- ultrasound guided
- case report
- prognostic factors
- pulmonary hypertension
- papillary thyroid
- squamous cell carcinoma
- ion batteries
- optical coherence tomography
- mitral valve
- copy number
- heart failure
- patient reported outcomes
- squamous cell
- pulmonary arterial hypertension
- cerebral palsy
- sensitive detection
- dna methylation
- coronary artery
- congenital heart disease