Cauda Equina Syndrome as First Manifestation of von Hippel-Lindau Disease

Abstract

Background: Von-Hippel Lindau (VHL) disease is rare neurocutaneous disorder arising from an inactivating mutation of the VHL gene on chromosome 3p35. The disease is inherited in an autosomal dominant fashion and predominantly involves tissues originating from the ectodermal germ layer. Although hemangioblastomas of retina and cerebellum are the most common clinical features, multiple-organ involvement in the form of renal cell carcinomas, spinal hemangioblastomas, renal cysts, and pancreatic cysts have also been reported. Hemangioblastomas of the spinal canal could present as cauda equina syndrome.

Case description: We describe the case of a 55-year-old man with cauda equina syndrome as his first manifestation. An initial magnetic resonance imaging scan uncovered hemangiomas in the spinal canal. A thorough family history strongly suggested an autosomal dominant pattern of disease inheritance. Further physical examination and imaging revealed additional organ involvement consistent with VHL. We performed laminectomy and partial resection of hemangioblastoma for decompression. He recovered satisfactorily with his cauda equina syndrome resolving quickly post operation. No deterioration was apparent by the 12-month follow-up visit.

Conclusions: To the best of our knowledge, this is the first case with cauda equina syndrome as the first manifestation of VHL disease. Laminectomy and partial resection of hemangioblastoma are safe and effective treatments to resolve impingement of the spinal cord. VHL disease resulting in hemangioblastoma in the spinal canal is rarely seen but should be included in the differential diagnosis of cauda equina syndrome to facilitate genetic counseling for the proband and offspring.

Keywords: Cauda equina syndrome; Hemangioblastomas; Surgical treatment; VHL disease.