title: Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings.
abstract: OBJECTIVE
  A wide variety of manifestations is presented in patients with Gaucher's disease (GD), including bone, haematology and visceral disturbances. This study was conducted to ascertain the main maxillofacial abnormalities by means of clinical survey, panoramic and cone beam CT (CBCT); to compare the patient's group with an age-sex matched control group; and to correlate clinical and radiological data.
  
  
  METHODS
  Ten patients previously diagnosed with GD were submitted to clinical and radiological surveys (CBCT and panoramic radiographs). The examination consisted of anamnesis, extra- and intraoral examinations and analyses of each patient's records. Imaging data were collected from the point of view of 3 observers, and the results compared with a healthy group (20 individuals) by means of statistical analysis (Fisher's exact test).
  
  
  RESULTS
  Gaucher patients had significantly more manifestations than otherwise healthy carriers. The most prevalent findings were enlarged marrow spaces, generalized osteopenia and effacement of jaw structures (mandibular canal, lamina dura and mental foramen). Here we describe a case in which thickening of the maxillary sinus mucosa was observed on CBCT rather than opacification of the sinus as seen on panoramic radiographs. Pathological fractures, root resorption and delay on tooth eruption were not observed.
  
  
  CONCLUSIONS
  A poor relationship could be observed between clinical and radiological data. Patients showed important bone manifestations, which require careful diagnostic and surgical planning whenever necessary. Although panoramic radiographs have shown significant differences, CBCT is more effective in pointing out differences between patients and a control group, thus showing it as an important tool for evaluation of Gaucher patients.
authors.affiliation: Department of Oral and Maxillofacial Pathology, Federal University of Para, Belem, Brazil. rmoutinho@hotmail.com
authors.forename: R M
authors.initials: RM
authors.lastname: Nobre
authors.forename: A L R
authors.initials: AL
authors.lastname: Ribeiro
authors.forename: S M
authors.initials: SM
authors.lastname: Alves-Junior
authors.forename: F M
authors.initials: FM
authors.lastname: Tuji
authors.forename: M das G
authors.initials: Md
authors.lastname: Rodrigues Pinheiro
authors.forename: L R
authors.initials: LR
authors.lastname: Pinheiro
authors.forename: J J V
authors.initials: JJ
authors.lastname: Pinheiro
mesh_terms: D000293:Adolescent; D000328:Adult; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging; D001855:Bone Marrow Diseases / Q000000981:diagnostic imaging; D016022:Case-Control Studies; D002648:Child; D054893:Cone-Beam Computed Tomography; D005260:Female; D005776:Gaucher Disease / Q000000981:diagnostic imaging*; D006801:Humans; D007571:Jaw Diseases / Q000000981:diagnostic imaging*; D008297:Male; D008335:Mandibular Condyle / Q000000981:diagnostic imaging; D008336:Mandibular Diseases / Q000000981:diagnostic imaging; D008439:Maxillary Diseases / Q000000981:diagnostic imaging; D008443:Maxillary Sinus / Q000000981:diagnostic imaging; D009297:Nasal Mucosa / Q000000981:diagnostic imaging; D011862:Radiography, Panoramic; D014076:Tooth Diseases / Q000000981:diagnostic imaging*; D055815:Young Adult