Muhammad Junaid, Mamoon Ur Rashid, Afeera afsheen, Ayesha Tahir, Mamoon Ahmad, Anisa Kalsoom


Von Hipple Lindau disease is a rare genetic autosomal dominant disorder, characterized by formation of tumors and fluid-filled cysts (sacs) in multiple organs of the body, which also carry a potential for malignancy. We are reporting a case of a young 20 years old female who presented to our department with von Hipple Lindau disease.

Full Text:



Huson SM, Harper PS, Hourihan MD, Cole G, Weeks RD, Compston DA. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain 1986;109(Pt 6):1297–310.

Gass JD, Braunstein R. Sessile and exophytic capillary angiomas of the juxtapapillary retina and optic nerve head. Arch Ophthalmol 1980;98(10):1790–7.

Pavesi G, Feletti A, Berlucchi S, Opocher G, Martella M, Murgia A, et al. Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome. J Neurosurg Sci 2008;52(2):29–36.

Maher ER, Webster AR, Moore AT. Clinical features and molecular genetic aspects of von Hippel Lindau disease. Ophthalmic Genet 1995;16(3):79–84.

Von Hippel-Lindau Disease. Information about VHL Disease; Patient [Internet] [cited 2015 May 23]. Available from: http://patient.info/doctor/von-hippel-lindau-disease

Melmon KL, Rosen SW. Lindau’s disease. Review of the literature and study of a large kindred. Am J Med 1964;36:595–617.

Frantzen C, Links T, Giles R. Von Hippel-Lindau Syndrome - GeneReviews® - NCBI Bookshelf [Internet] [cited 2015 May 23]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1463/

Maher E, Neumann HP, Richard S. von Hippel–Lindau disease: A clinical and scientific review. Eur J Hum Genet 2011;19(6):617–23.

Frantzen, Carlijn, Thera P. Links, Rachel H. Giles. "von Hippel-Lindau disease." 2012.

Richard S, Campello C, Taillandier L, Parker F, Resche F. Haemangioblastoma of the central nervous system in von Hippel-Lindau disease. French VHL study group. J Int Med 1998;243(6):547–53.

Lee SR, Sanches J, Mark AS, Dillon WP, Norman D, Newton TH. Posterior fossa hemangioblastomas: MR imaging. Radiology 1989;171(2):463–8.

Maher ER, Yates JRW, Harries R, Benjamin C, Harris R, Moore AT, et al. Temporal Sequence. QJ Med 1990;77:51–63.

Quadery FA, Okamoto K. Diffusion-weighted MRI of haemangioblastomas and other cerebellar tumours. Neuroradiology 2003;45(4):212–9.

Pithukpakorn M, Glenn GM. "von Hippel-Lindau syndrome." Community Oncology 2004;1(4):232–3.


  • There are currently no refbacks.

Contact Number: +92-992-382571

email: [jamc] [@] [ayubmed.edu.pk]