Prague Med. Rep. 2026, 127, 211-214

https://doi.org/10.14712/23362936.2026.27

A Clinical Insight into Von Hippel-Lindau Syndrome: Diagnostic Challenges

Giulia Andreia Curvelo Rosado1ID, Alessa Cury da Cunha1ID, Márcio Luís Duarte2,3,4,5ID, Vinicius Moreira Godoy de Abreu3ID

1Department of Internal Medicine, Faculdade de Ciências Médicas de Santos (FCMS) – Centro Universitário Lusíada, Santos (SP), Brazil
2Department of Radiology, Diagnósticos da América S. A. – DASA, São Paulo (SP), Brazil
3Department of Radiology, Hospital Luxemburgo, Belo Horizonte (MG), Brazil
4Department of Radiology, Universidade de Ribeirão Preto – Campus Guarujá, Guarujá (SP), Brazil
5Instituto de Ensino e Pesquisa DASA (IEPD), São Paulo (SP), Brazil

Received July 26, 2025
Accepted September 8, 2026

References

1. Costa, L. M. L., Bedin, A. P., Coutinho, N. R., do Lago, R. A. F., Oliveira, T. N. M., Zia, V. A. de A. (2023) Von Hippel-Lindau syndrome in a private cancer service in São Paulo: Case report. Revista Brasileira de Cancerologia 69(1), e-122686. <https://doi.org/10.32635/2176-9745.RBC.2023v69n3.3566>
2. Laks, S., van Leeuwaarde, R., Patel, D., Keutgen, X. M., Hammel, P., Nilubol, N., Links, T. P., Halfdanarson, T. R., Daniels, A. B., Tirosh, A. (2022) Management recommendations for pancreatic manifestations of von Hippel-Lindau disease. Cancer 128(3), 435–446. <https://doi.org/10.1002/cncr.33978>
3. Leung, R. S., Biswas, S. V., Duncan, M., Rankin, S. (2008) Imaging features of von Hippel-Lindau disease. Radiographics 28(1), 65–79. <https://doi.org/10.1148/rg.281075052>
4. Maher, E. R., Yates, J. R., Harries, R., Benjamin, C., Harris, R., Moore, A. T., Ferguson-Smith, M. A. (1990) Clinical features and natural history of von Hippel-Lindau disease. QJM 77(2), 1151–1163. <https://doi.org/10.1093/qjmed/77.2.1151>
5. Mikhail, M. I., Singh, A. K. (2022) Von Hippel-Lindau syndrome. StatPearls [Internet].
6. Mourão, J. L. V., Borella, L. F. M., Duarte, J. Á., Dalaqua, M., Fernandes, D. A., Reis, F. (2022) Imaging manifestations of von Hippel-Lindau disease: An illustrated guide with a focus on the central nervous system. Radiol. Bras. 55(3), 188–192.
7. Nielsen, S. M., Rhodes, L., Blanco, I., Chung, W. K., Eng, C., Maher, E. R., Richard, S., Giles, R. H. (2016) Von Hippel-Lindau disease: Genetics and role of genetic counseling in a multiple neoplasia syndrome. J. Clin. Oncol. 34(18), 2172–2181. <https://doi.org/10.1200/JCO.2015.65.6140>
8. Pantigozo-Rimachi, A., Murillo-Díaz, G., Carreazo, N. Y., Cucho Dávila, V. M. (2022) Von Hippel-Lindau disease with extramedullary and pancreatic involvement. Med. J. Armed Forces India 78(Suppl. 1), S282–S284. <https://doi.org/10.1016/j.mjafi.2020.02.006>
9. VHL Alliance (2020) What You Need to Know About VHL: A Reference Handbook for People with Von Hippel-Lindau, Their Families, and Their Medical Team, 6th Edition. VHL Alliance, Boston.
10. VHL Alliance (2023) Working to Cure Cancer Through VHL Research. VHL Alliance, Boston.
11. Victorio, M. C. (2023) Von Hippel-Lindau Disease (VHL). MSD Manual Edition for Professionals.
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ISSN 1214-6994 (Print) ISSN 2336-2936 (Online)

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