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Endolymphatic sac tumor as initial manifestation of von hippel-lindau syndrome.

Publication ,  Journal Article
Salazar, PF; Shields, CL; Materin, MA; Shields, JA
Published in: Retin Cases Brief Rep
2008

PURPOSE: To report endolymphatic sac tumor (ELST) as the initial finding in von Hippel-Lindau (VHL) syndrome. METHODS: Case report. RESULTS: A 4-year-old boy presented in February 2001 with right hearing loss and seventh nerve palsy from ELST. Genetic analysis showed a VHL mutation (gene 3p25-26). Systemic and ocular examination for VHL syndrome-related tumors was unrevealing. Four years later, multiple retinal hemangioblastoma (retinal capillary hemangioma) were detected in both eyes and successfully treated with argon laser photocoagulation. CONCLUSION: ELSTs can be the initial manifestation of VHL syndrome. Lifelong screening for related tumors, particularly retinal hemangioblastoma, is advised.

Duke Scholars

Published In

Retin Cases Brief Rep

DOI

ISSN

1935-1089

Publication Date

2008

Volume

2

Issue

4

Start / End Page

332 / 334

Location

United States

Related Subject Headings

  • 1113 Opthalmology and Optometry
 

Citation

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MLA
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Salazar, P. F., Shields, C. L., Materin, M. A., & Shields, J. A. (2008). Endolymphatic sac tumor as initial manifestation of von hippel-lindau syndrome. Retin Cases Brief Rep, 2(4), 332–334. https://doi.org/10.1097/ICB.0b013e318124a4c8
Salazar, Pedro F., Carol L. Shields, Miguel A. Materin, and Jerry A. Shields. “Endolymphatic sac tumor as initial manifestation of von hippel-lindau syndrome.Retin Cases Brief Rep 2, no. 4 (2008): 332–34. https://doi.org/10.1097/ICB.0b013e318124a4c8.
Salazar PF, Shields CL, Materin MA, Shields JA. Endolymphatic sac tumor as initial manifestation of von hippel-lindau syndrome. Retin Cases Brief Rep. 2008;2(4):332–4.
Salazar, Pedro F., et al. “Endolymphatic sac tumor as initial manifestation of von hippel-lindau syndrome.Retin Cases Brief Rep, vol. 2, no. 4, 2008, pp. 332–34. Pubmed, doi:10.1097/ICB.0b013e318124a4c8.
Salazar PF, Shields CL, Materin MA, Shields JA. Endolymphatic sac tumor as initial manifestation of von hippel-lindau syndrome. Retin Cases Brief Rep. 2008;2(4):332–334.

Published In

Retin Cases Brief Rep

DOI

ISSN

1935-1089

Publication Date

2008

Volume

2

Issue

4

Start / End Page

332 / 334

Location

United States

Related Subject Headings

  • 1113 Opthalmology and Optometry