Paediatric cerebellar haemangioblastoma as a manifestation of Von Hippel-Lindau disease: a clinic case

• Autores: Ramírez Espinoza, Alberto, Apaza Tintaya, Rene Alejandro, Mayo Simón, Nancy Lourdes, Heredia Mendoza, Dennis
• Formato: artículo
• Fecha de Publicación: 2023
• Institución: Instituto Nacional de Salud del Niño San Borja
• Repositorio: INSNS - Revistas
• Lenguaje: español; inglés
• OAI Identifier: oai:ojs.pkp.sfu.ca:article/66
• Enlace del recurso: https://investigacionpediatrica.insnsb.gob.pe/index.php/iicqp/article/view/66
• Nivel de acceso: acceso abierto
• Materia: Enfermedad de von Hippel-Lindau; Hemangioblastoma; von Hippel-Lindau Disease

Von Hippel-Lindau disease is a familial neoplastic syndrome caused by genetic mutations in the vHL tumor suppressor gene located on chromosome 3 (3p25-3p26). It is an autosomal dominant and multiorgan disorder characterized by the formation of benign and malignant tumors and cysts in various systems. The most common tumors in this disease are central nervous system haemangioblastomas, which affect up to 80% of patients and can cause significant morbidity and mortality due to mass effects on nearby structures. This study is a case report of a 12-year-old patient who was admitted for endocranial hypertension, and magnetic resonance imaging revealed a tumor in the posterior fossa. The patient underwent surgical treatment, and pathological examination revealed the tumor to be a haemangioblastoma. This case illustrates an early presentation of von Hippel-Lindau disease. This rare disease may be related to a phenomenon known as genetic anticipation.