title: Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.
abstract: BACKGROUND
  We describe radiographic changes in the ribs and scapulae seen in the first 6 months of life in children with ADA (adenosine deaminase) deficiency severe combined immundeficiency syndrome (SCIDS). We suggest that these changes are reversible with appropriate enzyme replacement therapy.
  
  
  OBJECTIVE
  The purpose of this study was to describe characteristic rib and scapular radiographic changes in infants with ADA-deficiency SCIDS.
  
  
  METHODS
  This was a retrospective review of chest radiographs of nine children with ADA-deficiency SCIDS performed in the first year of life by two experienced pediatric radiologists. A control cohort of unaffected children was used for comparison.
  
  
  RESULTS
  All children with ADA-deficiency SCIDS manifested unusual scapular spurring and anterior rib cupping. None of the control children manifested these changes.
  
  
  CONCLUSIONS
  Characteristic and reversible scapular and rib changes in the correct clinical setting should suggest an early diagnosis of ADA deficiency, prompting appropriate diagnostic and therapeutic measures.
authors.affiliation: Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto, Canada, M5G 1X8. david.manson@sickkids.ca
authors.forename: David
authors.initials: D
authors.lastname: Manson
authors.forename: Lauren
authors.initials: L
authors.lastname: Diamond
authors.forename: Kamaldine
authors.initials: K
authors.lastname: Oudjhane
authors.forename: Faisal Bin
authors.initials: FB
authors.lastname: Hussain
authors.forename: Chaim
authors.initials: C
authors.lastname: Roifman
authors.forename: Eyal
authors.initials: E
authors.lastname: Grunebaum
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D000361:Agammaglobulinemia / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013902:Radiography, Thoracic / Q000379:methods*; D015203:Reproducibility of Results; D012272:Ribs / Q000000981:diagnostic imaging*; D012540:Scapula / Q000000981:diagnostic imaging*; D012680:Sensitivity and Specificity; D016511:Severe Combined Immunodeficiency / Q000000981:diagnostic imaging*
chemical_list: D000243:Adenosine Deaminase