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

Authors

Giulia Andreia Curvelo Rosado, Alessa Cury da Cunha, Márcio Luís Duarte, Vinicius Moreira Godoy de Abreu

Published in

Prague medical report. Volume 127. Issue 3. Pages 211-214.

Abstract

Von Hippel-Lindau (VHL) syndrome is a rare hereditary disorder characterised by the development of multiple benign and malignant tumours across various organs. Caused by mutations in the VHL tumour suppressor gene, it presents a wide range of clinical manifestations, including retinal haemangioblastomas, central nervous system tumours, renal cell carcinoma, pancreatic lesions, and phaeochromocytomas. This report describes the case of a 35-year-old woman who presented with visual impairment and abdominal masses. Imaging revealed typical VHL manifestations, including bilateral renal lesions and pancreatic involvement. Genetic testing confirmed the diagnosis. The patient underwent staged partial nephrectomies, with histopathology confirming clear cell renal cell carcinoma in both kidneys. This case highlights the importance of recognising the variable clinical and radiological presentations of VHL syndrome. Early diagnosis and multidisciplinary management are essential to reduce morbidity and mortality. Increased awareness and regular surveillance are critical for timely detection and intervention in patients with VHL syndrome.

PMID:
42831607
Bibliographic data and abstract were imported from PubMed on 05 Oct 2026.

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