title: Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement.
abstract: BACKGROUND
  Congenital infantile myofibromatosis (IM) is a rare mesenchymal disease, presenting with tumors in the skin, muscle, viscera, bone, and subcutaneous tissue. It can present as (a) a solitary form with subcutaneous, erythematous nodules, (b) a multicentric form with subcutaneous, muscle, and/or bony lesions, and (c) a multicentric form with visceral involvement. Cerebral or spinal involvement in myofibromatosis has been reported rarely.
  
  
  METHODS
  We report seven cases of histology-proven infantile myofibromatosis with brain, spine, and/or head and neck involvement.
  
  
  RESULTS
  In three patients with multiple subcutaneous nodules, a multicentric form of IM with visceral involvement was diagnosed. In three patients, a multicentric form without visceral involvement was found. Two patients had brain involvement, and four patients had vertebral body involvement.
  
  
  CONCLUSIONS
  In a newborn presenting with intraparenchymal brain lesions, epidural spinal masses, and/or vertebra plana or lytic lesions of the calvarium and spine, infantile myofibromatosis should be considered as a possible differential diagnosis. The presence of subcutaneous or muscular nodules facilitates the diagnosis.
authors.affiliation: Department of Radiology, Medical University Vienna, University Hospital Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
authors.forename: Laura
authors.initials: L
authors.lastname: Holzer-Fruehwald
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Julia
authors.initials: J
authors.lastname: Fruehwald-Pallamar
authors.forename: Majda M
authors.initials: MM
authors.lastname: Thurnher
mesh_terms: D001706:Biopsy; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D018224:Myofibromatosis / Q000151:congenital* / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed