title: Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis.
abstract: 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.
authors.affiliation: Department of Radiology, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, 848 Adams Ave., G 216, Memphis, TN, 38103, USA. annakthomasmd@gmail.com.
authors.forename: Anna K
authors.identifier: http://orcid.org/0000-0003-4945-5973
authors.initials: AK
authors.lastname: Thomas
authors.affiliation: Department of Radiology, Phoenix Children's Hospital, Phoenix, AZ, USA.
authors.forename: John C
authors.initials: JC
authors.lastname: Egelhoff
authors.affiliation: Department of Radiology, Phoenix Children's Hospital, Phoenix, AZ, USA.
authors.forename: John G
authors.initials: JG
authors.lastname: Curran
authors.affiliation: , Scottsdale, AZ, USA.
authors.forename: Bobby
authors.initials: B
authors.lastname: Thomas
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009442:Neurilemmoma / Q000000981:diagnostic imaging*; D017253:Neurofibromatoses / Q000000981:diagnostic imaging*; D009456:Neurofibromatosis 1 / Q000000981:diagnostic imaging*; D016518:Neurofibromatosis 2 / Q000175:diagnosis*; D010307:Parotid Neoplasms / Q000000981:diagnostic imaging*; D035583:Rare Diseases / Q000000981:diagnostic imaging; D012878:Skin Neoplasms / Q000000981:diagnostic imaging*
keywords: Adolescent; Magnetic resonance imaging; Neurofibromatosis; Schwannomatosis; Spinal cord; Spine