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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Salazar, PF; Shields, CL; Materin, MA; Shields, JA

Published Date

  • 2008

Published In

Volume / Issue

  • 2 / 4

Start / End Page

  • 332 - 334

PubMed ID

  • 25390606

Pubmed Central ID

  • 25390606

International Standard Serial Number (ISSN)

  • 1935-1089

Digital Object Identifier (DOI)

  • 10.1097/ICB.0b013e318124a4c8


  • eng

Conference Location

  • United States