Orphanet Journal of Rare Diseases (Jan 2021)

[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

  • I. Gallais Sérézal,
  • S. Ferkal,
  • L. Lerman,
  • S. Mulé,
  • B. Funalot,
  • P. Wolkenstein

DOI
https://doi.org/10.1186/s13023-021-01680-0
Journal volume & issue
Vol. 16, no. 1
pp. 1 – 5

Abstract

Read online

Abstract Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwannomas and whole-body [18F]FDG-PET/MRI might help detect extra schwannomas in patients when the diagnosis is uncertain. Among the 25 patients treated for Schwannomatosis in our tertiary center, three men and two women had had a [18F]FDG-PET/MRI performed, and the number of schwannomas detected by [18F]FDG-PET/MRI outnumbered the number of schwannomas suspected during the clinical examination. The majority of schwannomas exhibited a radiolabeling (median of 66.7%, range 28–93%). Our findings show that [18F]FDG-PET/MRI could prove useful when suspecting schwannomatosis to accelerate diagnosis and offer optimal care to patients.

Keywords