Syndrome Von Hippel – Lindau and cerebellar hemangioblastoma with arteriovenous malformation

Abstract

Von Hippel Lindau syndrome (VHL) is associated with a variety of benign and malignant tumors, caused by germline mutations of the tumor suppressor gene VHL, located on chromosome 3p, generating neoformations such as hemangioblastoma, renal cell carcinoma and neuroendocrine tumors. The aim of this work is to describe a clinical case of Von Hippel Syndrome - Lindau and cerebellar hemangioblastoma associated with cerebral arteriovenous malformation and to conduct a review of the literature on the subject. We analyzed current scientific articles from recognized databases such as Pubmed, Medline, Elsevier, among others, articles mostly from 2016 onwards, in the Spanish and English languages. 28 articles were selected. Review articles, meta-analysis, observational, descriptive, retrospective studies and opinions of authors on the topic of Von Hippel Lindau syndrome, hemangioblastoma and arteriovenous malformation. We present the clinical case of a 27-year-old patient with a history of Von Hippel Lindau syndrome with cerebellar hemangioblastoma and arteriovenous malformation, being this association very rare, it provides great clinical relevance for the case presentation. It is concluded that Von Hippel Lindau syndrome has a variable hereditary expression, debuts in young people, requires periodic follow-ups and its treatment varies according to the type of tumor, the association with an arteriovenous malformation is rare and the prognosis and treatment depends on the location.