Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease
Von Hippel-Lindau disease is a genetic disorder characterised by the development of a variety of tumours and cysts, with central nervous system (CNS) haemangioblastoma being the most common manifestation. Early diagnosis through genetic counselling and surveillance is crucial for detecting asymptomatic stages of the disease to minimise morbidity and mortality associated with tumour complications and treatment interventions. In this report, we describe two cases of very early-onset symptomatic CNS haemangioblastoma and discuss the potential improvement in surveillance protocols by including both clinical and genetic factors.
Authors
- Diana Salinas
- Loreto Martorell (ORCID: https://orcid.org/0000-0003-0898-7332)
- Ofelia Cruz (ORCID: https://orcid.org/0000-0001-7102-3283)
- Andrés Morales La Madrid (ORCID: https://orcid.org/0000-0001-7083-4316)
- Marina Caballero (ORCID: https://orcid.org/0000-0001-9289-3990)
- Vicente Santa‐María López (ORCID: https://orcid.org/0000-0001-8450-0480)
- Jordi Muchart (ORCID: https://orcid.org/0000-0003-4702-5072)
- S.P. Hector (ORCID: https://orcid.org/0000-0002-2515-0019)
- Maria Victoria Becerra
- Laura Martí
- J. Hinojosa (ORCID: https://orcid.org/0000-0003-2438-7679)
- Miriam Pavon-Mengual
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-03-27
- DOI
- https://doi.org/10.1136/jmg-2024-110477
- Primary Topic
- Cancer, Hypoxia, and Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00