{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:50:47Z","timestamp":1791208247931,"version":"4.1.0"},"reference-count":11,"publisher":"Charles University in Prague, Karolinum Press","issue":"3","license":[{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":277,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"tdm","delay-in-days":277,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prague Med. Rep."],"published-print":{"date-parts":[[2026]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.14712\/23362936.2026.27","type":"journal-article","created":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:50:31Z","timestamp":1791204631000},"page":"211-214","source":"Crossref","is-referenced-by-count":0,"title":["A Clinical Insight into Von Hippel-Lindau Syndrome: Diagnostic Challenges"],"prefix":"10.14712","volume":"127","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3293-547X","authenticated-orcid":false,"given":"Giulia Andreia Curvelo","family":"Rosado","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9025-9339","authenticated-orcid":false,"given":"Alessa Cury","family":"da Cunha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7874-9332","authenticated-orcid":false,"given":"M\u00e1rcio Lu\u00eds","family":"Duarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7190-0414","authenticated-orcid":false,"given":"Vinicius Moreira Godoy","family":"de Abreu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2026,10,5]]},"reference":[{"key":"23362936.2026.27_1","doi-asserted-by":"crossref","first-page":"e-122686","DOI":"10.32635\/2176-9745.RBC.2023v69n3.3566","volume":"69","author":"Costa","year":"2023","journal-title":"Revista Brasileira de Cancerologia"},{"key":"23362936.2026.27_2","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/cncr.33978","volume":"128","author":"Laks","year":"2022","journal-title":"Cancer"},{"key":"23362936.2026.27_3","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1148\/rg.281075052","volume":"28","author":"Leung","year":"2008","journal-title":"Radiographics"},{"key":"23362936.2026.27_4","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1093\/qjmed\/77.2.1151","volume":"77","author":"Maher","year":"1990","journal-title":"QJM"},{"key":"23362936.2026.27_5","unstructured":"Mikhail, M. I., Singh, A. K. (2022) Von Hippel-Lindau syndrome. StatPearls [Internet]."},{"key":"23362936.2026.27_6","first-page":"188","volume":"55","author":"Mour\u00e3o","year":"2022","journal-title":"Radiol. Bras."},{"key":"23362936.2026.27_7","doi-asserted-by":"crossref","first-page":"2172","DOI":"10.1200\/JCO.2015.65.6140","volume":"34","author":"Nielsen","year":"2016","journal-title":"J. Clin. Oncol."},{"key":"23362936.2026.27_8","doi-asserted-by":"crossref","first-page":"S282","DOI":"10.1016\/j.mjafi.2020.02.006","volume":"78","author":"Pantigozo-Rimachi","year":"2022","journal-title":"Med. J. Armed Forces India"},{"key":"23362936.2026.27_9","unstructured":"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."},{"key":"23362936.2026.27_10","unstructured":"VHL Alliance (2023) Working to Cure Cancer Through VHL Research. VHL Alliance, Boston."},{"key":"23362936.2026.27_11","unstructured":"Victorio, M. C. (2023) Von Hippel-Lindau Disease (VHL). MSD Manual Edition for Professionals."}],"container-title":["Prague Medical Report"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pmr.lf1.cuni.cz\/media\/pdf\/pmr_2026127030211.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:51:14Z","timestamp":1791204674000},"score":1,"resource":{"primary":{"URL":"https:\/\/pmr.lf1.cuni.cz\/127\/3\/0211\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026]]}},"alternative-id":["pmr_2026127030211"],"URL":"https:\/\/doi.org\/10.14712\/23362936.2026.27","relation":{},"ISSN":["1214-6994","2336-2936"],"issn-type":[{"value":"1214-6994","type":"print"},{"value":"2336-2936","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]}}}