title: Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results.
abstract: OBJECTIVE
  Since 1991, enzyme replacement therapy (ERT) has been available for patients with Gaucher disease in Germany. The aim of this study was to analyse the MR pattern of bone marrow involvement and response to ERT in Gaucher disease type I.
  
  
  METHODS
  Thirty patients with Gaucher disease type I had MRI examinations prior to initiation of ERT with alglucerase/imiglucerase and during follow-up. Median MR follow-up and duration of ERT were 36 months. Coronal T1- and T2-weighted spin-echo images of the lower extremities were obtained to evaluate changes in the appearance of yellow marrow. MR images were categorized as having either a homogeneous (type A) or non-homogeneous patchy (type B) appearance of bone involvement and response to ERT was assessed by two radiologists.
  
  
  RESULTS
  Overall, 19 of 30 patients (63%) showed an increased signal intensity on T1- and T2-weighted images after 36 months of ERT, consistent with partial reconversion of fatty marrow during treatment. Focal bone lesions surrounded by a low signal intensity (SI) rim did not respond to ERT, suggesting bone infarcts. Of the 11 patients with bone infarcts (low SI rim lesion), 82% had the non-homogeneous type B pattern (P=0.0021). In 86% of patients with splenectomy, bone infarcts were seen (P<0.05).
  
  
  CONCLUSIONS
  MRI using T1- and T2-weighted spin-echo sequences is a valuable, non-invasive method for monitoring bone marrow response in patients receiving ERT. A non-homogeneous patchy signal intensity of bone marrow involvement correlates with the presence of bone infarcts (P=0.0021).
authors.affiliation: Department of Diagnostic Radiology, Heinrich Heine University Düsseldorf, Germany.
authors.forename: L W
authors.initials: LW
authors.lastname: Poll
authors.forename: J A
authors.initials: JA
authors.lastname: Koch
authors.forename: S
authors.initials: S
authors.lastname: vom Dahl
authors.forename: R
authors.initials: R
authors.lastname: Willers
authors.forename: A
authors.initials: A
authors.lastname: Scherer
authors.forename: D
authors.initials: D
authors.lastname: Boerner
authors.forename: C
authors.initials: C
authors.lastname: Niederau
authors.forename: D
authors.initials: D
authors.lastname: Häussinger
authors.forename: U
authors.initials: U
authors.lastname: Mödder
mesh_terms: D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000187:drug effects / Q000378:metabolism / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000188:drug therapy* / Q000473:pathology*; D005858:Germany; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012815:Signal Processing, Computer-Assisted; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase