VON HIPPEL LINDAU SYNDROME AND SURVEILLANCE: A FIVE YEAR FOLLOW UP CASE REPORT
Abstract
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.References
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.
Published
Issue
Section
License
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.
