A case of von Hippel-Lindau disease with multi-organ involvement: a rare case report
Keywords:Anti-angiogenic drugs, Autosomal dominant, Tumour suppressor gene, VHL disease
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.
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993;260:1317-20.
Kaelin WG Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer. 2002;2:673-82.
Keutgen XM, Hammel P, Choyke PL, Libutti SK, Jonasch E, Kebebew E. Evaluation and management of pancreatic lesions in patients with von Hippel–Lindau disease. Nature Rev Clin Oncol. 2016;13(9):537.
Neumann HPH, Wiestler OD. Clustering of features of von Hippel Lindau syndrome: evidence for a complex genetic locus. Lancet. 1991;337:1052-4.
Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, et al. Temporal sequence. QJ Med. 1990;77(1):51-63.
Gossage L, Eisen T, Maher ER. VHL, the story of a tumour suppressor gene. Nat Rev Cancer. 2014;15:55-64.
Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, et al. Von Hippel-Lindau disease: a genetic study. J Med Genetics. 1991;28(7):443-7.
Hes FJ. Pheochromocytoma in Von Hippel-Lindau Disease. J Clin Endocrinol Metab. 2003;88:969-74.
Quadery FA, Okamoto K. Diffusion-weighted MRI of haemangioblastomas and other cerebellar tumours. Neuroradiology. 2003;45:212-9.
Junaid M, Rashid MU, Tahir A, Ahmad M, Kalsoom A. Von Hippel Lindau syndrome and surveillance: A five year follow up case report. J Ayub Med Coll Abbottabad. 2015;27(4):930-2.
Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: A clinical and scientific review. Eur J Hum Genetics. 2011;19(6):617-23.
Motzer RJ, Rini BI, Michaelson MD, Redman BG, Hudes GR, Wilding G, et al. Phase 2 trials of SU11248 show antitumor activity in second-line therapy for patients with metastatic renal cell carcinoma (RCC). J Clin Oncol. 2005;23(16):4508.