VON HIPPEL LINDAU SYNDROME AND SURVEILLANCE: A FIVE YEAR FOLLOW UP CASE REPORT

Authors

  • Muhammad Junaid CMH Peshawar
  • Mamoon Ur Rashid Khyber teaching hospital, Peshawar, KPK, Pakistan
  • Afeera afsheen Classified Gynecologist and Obstetrician, Combined Military Hospital, Peshawar, Pakistan.
  • Ayesha Tahir Khyber Teaching Hospital, Peshawar, Pakistan
  • Mamoon Ahmad Army medical college rawalpindi
  • Anisa Kalsoom Classified Radiologist, Fauji Foundation Hospital Rawalpindi, Pakistan.

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.

Author Biographies

Muhammad Junaid, CMH Peshawar

FCPS    Classified Neurosurgeon Combined Military Hospital, Peshawar, Pakistan.

Mamoon Ur Rashid, Khyber teaching hospital, Peshawar, KPK, Pakistan

House Officer, Khyber teaching Hospital

Afeera afsheen, Classified Gynecologist and Obstetrician, Combined Military Hospital, Peshawar, Pakistan.

FCPS      Classified Gynecologist and Obstetrician, Combined Military Hospital, Peshawar, Pakistan.

Ayesha Tahir, Khyber Teaching Hospital, Peshawar, Pakistan

House Officer, Khyber Teaching Hospital, Peshawar, Pakistan

Mamoon Ahmad, Army medical college rawalpindi

Medical student, Army medical college rawalpindi

Anisa Kalsoom, Classified Radiologist, Fauji Foundation Hospital Rawalpindi, Pakistan.

FCPS Classified Radiologist, Fauji Foundation Hospital Rawalpindi, Pakistan. 

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.

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Published

2015-12-15

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