Neurological Management of Von Hippel-Lindau Disease

  title={Neurological Management of Von Hippel-Lindau Disease},
  author={Trent S. Hodgson and S. Moller Nielsen and Maciej S. Lesniak and Rimas V. Lukas},
  journal={The Neurologist},
Von Hippel-Lindau disease is a genetic condition due to mutation of the Von Hippel-Lindau gene, which leads to an increased risk in the development of hemangioblastomas of the brain and spinal cord. The pathophysiology of disease and its clinical manifestations, as they pertain to the general neurologist, are discussed. Therapeutic management of central nervous system hemangioblastomas ranging from neurosurgical resection, radiation therapy, and systemic therapies is reviewed. 
2 Citations
Von Hippel-Lindau disease: when neurosurgery meets nephrology, ophthalmology and genetics.
VHL requires a multidisciplinary management to provide the highest quality of care and gathering together specialists in different domains around the production and reading of a comprehensive document may contribute to this purpose. Expand
Primary Central Nervous System Tumors
An overview is provided of the major categories of primary CNS tumors and the key tumor subtypes which comprise these categories, with an emphasis on the molecular pathologic features and their incorporation into diagnosis as well as the insight they provide for prognosis. Expand


von Hippel–Lindau disease: A clinical and scientific review
The clinical and genetic features of VHL disease are reviewed, the molecular pathogenesis is reviewed and clinical management and tumour surveillance strategies are outlined. Expand
von Hippel-Lindau disease
An overview of the clinical aspects, management, and treatment options for von Hippel-Lindau disease is presented. Expand
Management of von Hippel–Lindau disease-associated CNS lesions
Various aspects of perioperative management of patients with VHL, surgical indications and general operative principles for the management of hemangioblastomas and ELSTs, and outcomes associated with the surgical treatment of these tumors are reviewed. Expand
Monotherapy with thalidomide for treatment of spinal cord hemangioblastomas in a patient with von Hippel–Lindau disease
An adolescent with VHL complicated by progressive, multifocal spinal hemangioblastomas is described, finding that treatment with single‐agent thalidomide over the course of 3 years was associated with an unexpected stabilization of the disease. Expand
Imaging features of von Hippel-Lindau disease.
Screening is important because the lesions in VHL disease are treatable; thus, early detection allows use of more conservative therapy and may enhance the patient's length and quality of life. Expand
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate theExpand
Von Hippel-Lindau disease.
Despite advances in early diagnosis and management of VHL disease, life expectancy for VHL patients remains low at 40-52 years and secondary effects from VHL manifestations are mitigated by routine surveillance and early detection. Expand
Von Hippel-Lindau Disease: A Genetic and Clinical Review
Understanding of the mechanisms and genetics underlying VHL and its associated retinal hemangioblastomas has increased substantially in recent years, and studies suggest that targeting various proteins along with anti-angiogenesis molecules may be a better therapeutic approach than targeting VEGF alone. Expand
Spinal hemangioblastoma containing metastatic renal cell carcinoma in von Hippel-Lindau disease. Case report and review of the literature.
The authors describe the case of a patient with von Hippel-Lindau (VHL) disease in which a spinal hemangioblastoma contained metastatic renal cell carcinoma (RCC), which is the second most common donor-recipient tumor association among the tumor-to-tumor metastases. Expand
The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease.
The natural history and growth pattern of hemangioblastomas of the central nervous system (CNS) that are associated with von Hippel-Lindau (VHL) disease is defined and characteristics must be considered when determining the optimal timing of screening for individual patients and for evaluating the timing and results of treatment. Expand