A case of von Hippel-Lindau disease with multi-organ involvement: a rare case report

Autor:	Mrinal Bhuyan, Ashish Ghanghoria, Basanta Kumar Baishya, Debadatta Saha
Rok vydání:	2020
Předmět:	Multi-organ involvement Pathology medicine.medical_specialty business.industry Rare case Medicine Von Hippel–Lindau disease urologic and male genital diseases business medicine.disease female genital diseases and pregnancy complications
Zdroj:	International Surgery Journal. 7:1684
ISSN:	2349-2902 2349-3305
DOI:	10.18203/2349-2902.isj20201897
Popis:	Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of tumours in the central nervous system (CNS) and other visceral organs. We herein report a case of 35 years aged newly diagnosed diabetic female patient presented with headache, gait instability, loss of vision in both eyes, left sided hearing impairment and subsequently diagnosed to have VHL disease. The pathophysiology involves the inactivation of the VHL tumour suppressor gene. Early recognition and treatment remains the mainstay of management. Even many years after the complete tumour excision, newer neoplasms may develop. Increasing knowledge about the molecular enabled us to investigate the role of anti-angiogenic drugs. Continuous surveillance at regular interval must be conducted in patients with VHL disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::9e7d39c594cbb9e70e2416251b99ab69 https://doi.org/10.18203/2349-2902.isj20201897 Zobrazit plný text záznamu