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2023, Number 2

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Acta Med 2023; 21 (2)

Von Hippel-Lindau syndrome

Díaz SMJ, Castro SJ, Conde CB, Piña RL, Valencia AC, Mina RE, Vadillo SA, Gaxiola MA
Full text How to cite this article 10.35366/110266

DOI

DOI: 10.35366/110266
URL: https://dx.doi.org/10.35366/110266

Language: Spanish
References: 3
Page: 167-169
PDF size: 140.84 Kb.


Key words:

Von Hippel-Lindau syndrome, magnetic resonance imaging, diagnostic imaging, neoplastic syndromes, renal cysts, pancreatic cysts.

ABSTRACT

Introduction: Von Hippel-Lindau disease (VHL) is an inherited disorder that predisposes the development of various tumors that mainly affect the central nervous system, kidney, and pancreas. Due to its possibility of developing renal cell carcinoma and having clinical consequences in the pancreas, imaging surveillance is necessary to identify these manifestations promptly. Clinical case: a 23-year-old female patient, recently diagnosed with VHL disease and evidence of hemangioblastoma in the cerebellum that required surgical treatment, presented asymptomatically for an abdominal MRI as part of her screening studies. Conclusion: imaging studies are necessary for patients diagnosed with VHL to make a timely diagnosis of the possible affectations in the organs most frequently related to the disease.


REFERENCES

  1. Maher ER, Neumann HP, Richard S. von Hippel–Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011; 19 (6): 617-623.

  2. Olea I, Vargas B, Sobrino B, Domínguez E. Manifestaciones abdominales en la enfermedad de von Hippel Lindau en una serie de 7 pacientes y revisión de la bibliografía. Radiología. 2009; 51 (2): 198-203.

  3. Glasker S, Vergauwen E, Koch CA, Kutikov A, Vortmeyer AO. Von Hippel-Lindau disease: current challenges and future prospects. Onco Targets Ther. 2020; 13: 5669-5690.




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C?MO CITAR (Vancouver)

Acta Med. 2023;21