title: Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.
abstract: OBJECTIVE
  To evaluate whole-body magnetic resonance imaging (WB-MRI) for the assessment of bone marrow infiltration in patients with confirmed Gaucher disease type 1 under long-term enzyme replacement therapy (ERT).
  
  
  METHODS
  This retrospective data analysis included 38 patients in two subgroups. Group A: 10 females, 9 males, 15-29 years, mean age 22 years and Group B: 11 females, 8 males, 29-77 years, mean age 49 years, all treated with alglucerase or imiglucerase for at least 12.5 years. Whole-body MRI was carried out in all patients using a standard MRI protocol. Two radiologists assessed all MR images retrospectively with the use of three different MRI score systems: The bone marrow burden (BMB) score, the Düsseldorf-Gaucher score (DGS) and the vertebra disc ratio (VDR). As a clinical component, severity score index type 1 (GD-DS3) was determined.
  
  
  RESULTS
  In both groups the MR scores showed low to moderate pathologic levels but no statistically significant difference was found between both groups. The median scores in group A/group B were 7.00/9.00 for the BMB score (p=0.07), 4.00/3.00 for the DGS score (p=0.062) and 1.54/1.62 for the VDR score (p=0.267). The GD-DS3 score was statistically significantly different between both groups (1.6/3.9, p=0.000) and osseous Gaucher disease complications were only found in group B.
  
  
  CONCLUSIONS
  Bone marrow involvement and typical clinical manifestations are reduced to a minimum, when ERT starts immediately after the confirmed diagnosis of Gaucher disease type 1. The applied MR scores are useful markers to control bone marrow infiltration under enzyme replacement therapy in older patients. Pathologic MR scores in young patients may reflect postponed fat conversion of the juvenile bone marrow. This issue has to be examined in further studies.
  
  
  CONCLUSIONS
  Whole-body MRI is valuable for the staging of Gaucher disease type 1. Osseous complications are reduced to a minimum in early treated patients. MR score systems have to be adjusted in young Gaucher patients.
authors.affiliation: Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Laudemann
authors.affiliation: Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: L
authors.initials: L
authors.lastname: Moos
authors.affiliation: Clinic for Metabolic Diseases, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: K E
authors.initials: KE
authors.lastname: Mengel
authors.affiliation: Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Lollert
authors.affiliation: Clinic for Metabolic Diseases, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Reinke
authors.affiliation: Clinic for Metabolic Diseases, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Brixius-Huth
authors.affiliation: Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Wagner
authors.affiliation: Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University Mainz, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Düber
authors.affiliation: Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Staatz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001822:Body Burden; D001853:Bone Marrow / Q000473:pathology*; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D051598:Whole Body Imaging; D055815:Young Adult