Disseminated hemangioblastomatosis of the central nervous system without von Hippel-Lindau disease: a case report

J Korean Med Sci. 2009 Aug;24(4):755-9. doi: 10.3346/jkms.2009.24.4.755. Epub 2009 Jul 30.

Abstract

We report a very rare case of hemangioblastomatosis that developed after surgical removal of a solitary cerebellar hemangioblastoma (HB). A 51-yr-old man presented with back pain 10 yr after undergoing surgery for cerebellar HB. Magnetic resonance imaging showed numerous mass lesions along the entire neuraxis accompanied by prominent leptomeningeal enhancement. Genomic DNA analysis showed no mutation in the von Hippel-Lindau (VHL) genes. A surgical specimen obtained from a lesion in the cauda equina showed pathological findings identical to those of the cerebellar HB that had been resected 10 yr earlier. External beam radiation therapy and radiosurgery were subsequently performed; however, the patient succumbed one year after receiving the diagnosis of hemangioblastomatosis. The reduction of tumor cell spillage during surgery and regular long-term follow-up are recommended for patients with HBs.

Keywords: Central Nervous System; Hemangioblastoma; von Hippel-Lindau Disease.

Publication types

  • Case Reports

MeSH terms

  • Central Nervous System Neoplasms / diagnosis*
  • Central Nervous System Neoplasms / pathology
  • Central Nervous System Neoplasms / surgery
  • Cerebellar Neoplasms / pathology
  • Cerebellar Neoplasms / radiotherapy
  • Cerebellar Neoplasms / surgery
  • Hemangioblastoma / diagnosis*
  • Hemangioblastoma / pathology
  • Hemangioblastoma / surgery
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Recurrence
  • von Hippel-Lindau Disease / genetics