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Screening
Short report
Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease
  1. Marina Caballero1,
  2. Vicente Santa-Maria Lopez1,
  3. Laura Marti2,
  4. Loreto Martorell2,
  5. Diana Salinas2,
  6. Jose Hinojosa3,
  7. Maria Victoria Becerra3,
  8. Miriam Pavon-Mengual1,
  9. Andres Morales La Madrid1,
  10. Ofelia Cruz1,
  11. Jordi Muchart4,
  12. Hector Salvador5
  1. 1Neuro-Oncology Unit, Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain
  2. 2Department of Medical and Molecular Genetics, Hospital Sant Joan de Déu, Barcelona, Spain
  3. 3Department of Pediatric Neurosurgery, Hospital Sant Joan de Déu, Barcelona, Spain
  4. 4Department of Diagnostic Imaging, Hospital Sant Joan de Déu, Barcelona, Spain
  5. 5Cancer Predisposition Unit, Pediatric Cancer Center Barcelona, Sant Joan de Déu Hospital, Barcelona, Spain
  1. Correspondence to Dr Hector Salvador; hector.salvador{at}sjd.es

Abstract

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.

  • Genetic Counselling
  • Central Nervous System Diseases
  • Neoplasms
  • Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Early Diagnosis

https://doi.org/10.1136/jmg-2024-110477

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    Footnotes

    • MC and VS-ML contributed equally.

    • Contributors MC, HS and VS-ML conceived of the presented idea. MC and VS-ML wrote the manuscript. HS supervised the manuscript writing. LMarti, LMarto and DS performed the genetic analysis. JM contributed to the imaging review and figures. All authors discussed the cases and contributed to the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.