Von Hippel-Lindau disease (VHL): investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Von Hippel-Lindau disease (VHL): investigations. MRI brain and whole spine, MRI internal auditory canal. Fully referenced neurology checklist.

Baseline investigations

  • MRI brain and whole spine
  • MRI internal auditory canal
  • Genetic testing
  • Plasma free metanephrines
  • Genetic analysis/genomic screening

Other investigations

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References

  1. Daniels AB, Tirosh A, Huntoon K, et al. Guidelines for surveillance of patients with von Hippel-Lindau disease: Consensus statement of the International VHL Surveillance Guidelines Consortium and VHL Alliance. Cancer 2023 (Online ahead of print).
  2. Louise M Binderup M, Smerdel M, Borgwadt L, et al. von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance. Eur J Med Genet 2022; 65:104538.

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