Pediatric Radiology

, Volume 46, Issue 3, pp 430–435 | Cite as

Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis

  • Anna K. ThomasEmail author
  • John C. Egelhoff
  • John G. Curran
  • Bobby Thomas
Case Report


Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI. On extensive further work-up, this patient met the existing clinical criteria for schwannomatosis. This case report aims to review the clinical features and current diagnostic criteria for schwannomatosis and compare it to NF1 and NF2. Special emphasis will be placed on imaging features that should prompt the radiologist to suggest this rare diagnosis.


Adolescent Magnetic resonance imaging Neurofibromatosis Schwannomatosis Spinal cord Spine 


Compliance with ethical standards

Conflicts of interest



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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Department of Radiology, Le Bonheur Children’s HospitalUniversity of Tennessee Health Science CenterMemphisUSA
  2. 2.Department of RadiologyPhoenix Children’s HospitalPhoenixUSA
  3. 3.ScottsdaleUSA

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