Prague Med. Rep. 2026, 127, 211-214
A Clinical Insight into Von Hippel-Lindau Syndrome: Diagnostic Challenges
, Alessa Cury da Cunha1, Márcio Luís Duarte2,3,4,5, Vinicius Moreira Godoy de Abreu3
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
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.
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This is an open-access article distributed under the terms of the Creative Commons Attribution License.
