Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis

Anna Thomas, John C. Egelhoff, John G. Curran, Bobby Thomas

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)430-435
Number of pages6
JournalPediatric radiology
Volume46
Issue number3
DOIs
StatePublished - Mar 1 2016

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Neurofibromatoses
Neurofibromatosis 2
Neurofibromatosis 1
Pediatrics
Molecular Biology
Schwannomatosis

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

Cite this

Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis. / Thomas, Anna; Egelhoff, John C.; Curran, John G.; Thomas, Bobby.

In: Pediatric radiology, Vol. 46, No. 3, 01.03.2016, p. 430-435.

Research output: Contribution to journalArticle

Thomas, Anna ; Egelhoff, John C. ; Curran, John G. ; Thomas, Bobby. / Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis. In: Pediatric radiology. 2016 ; Vol. 46, No. 3. pp. 430-435.
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