May 13, 2026Open Access

Von Hippel-Lindau syndrome with central nervous system involvement and family history: A case report

MSMehul ShahNarayana Nethralaya SSShreya M ShahNarayana Nethralaya ETEram TandelNarayana Nethralaya

Key Points

To present a case of Von Hippel-Lindau syndrome with central nervous system involvement and a significant family history.
Case report of a patient with a family history of VHL and CNS involvement.
Patient presented with an ovarian cyst and retinal capillary hemangioma.
Multidisciplinary treatment approach over a 4-year follow-up period.
Patient achieved successful vision salvage.
Multiple benign and malignant tumors were managed effectively.

Abstract

Von Hippel-Lindau (VHL) syndrome is a hereditary neoplastic disorder inherited in an autosomal dominant pattern, characterized by the formation of multiple benign and malignant tumors and cysts in various organ systems, including the central nervous system (CNS) and visceral organs. We present a case with a significant family history of VHL, featuring CNS involvement, an ovarian cyst, and retinal capillary hemangioma. The patient underwent multidisciplinary treatment and was followed for 4 years, achieving successful vision salvage.

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