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1 . 2021

A familial case of von Hippel-Lindau disease associated with spinal cord hemangioblastoma and syringomyelia: surgical treatment and dynamic monitoring

Abstract

Hemangioblastomas are benign, slow-growing tumors with increased blood supply, in 20-30% of cases they are related with the manifestation of von Hippel-Lindau (VHL) disease (cerebroretinal angiomatosis). Their spinal localization is rather rare; less than 1000 such cases have been described. The article presents a clinical case and surgical treatment outcome of a young patient with spinal cord hemangioblastoma associated with syringomyelia. During the patient's examination and treatment, VHL syndrome caused by the c.340 + 1G>A mutation in the VHL gene was diagnosed and confirmed. The article discusses the features of dynamic monitoring of patients with this disease conditioned by a high risk of developing multiple neoplasias.

Keywords:hemangioblastoma, syringomyelia, von Hippel-Lindau disease, cerebroretinal angiomatosis, VHL, tumor suppressor genes, phacomatosis

Funding. The study had no sponsor support.
Conflict of interests. The authors declare no conflict of interests.
For citation: Levin R.S., Zaklyazminskaya E.V., Aslanukov M.N., Oshepkov S.K., Vasiliev S.A. A familial case of von Hippel-Lindau disease associated with spinal cord hemangioblastoma and syringomyelia: surgical treatment and dynamic monitoring. Clinical and Experimental Surgery. Petrovsky Journal. 2021; 9 (1): 119-25. DOI: https://doi.org/10.33029/2308-1198-2021-9-1-119-125 (in Russian)

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CHIEF EDITOR
CHIEF EDITOR
Sergey L. Dzemeshkevich
MD, Professor (Moscow, Russia)

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