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. MATERIALS AND 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. CONCLUSION: 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.
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. MATERIALS AND 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. CONCLUSION: 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: Olga Nikolajeva; Austen Worth; Rosie Hague; Nuria Martinez-Alier; Joanne Smart; Stuart Adams; E Graham Davies; H Bobby Gaspar Journal: J Clin Immunol Date: 2015-04-15 Impact factor: 8.317
Authors: Donald B Kohn; Michael S Hershfield; Jennifer M Puck; Alessandro Aiuti; Annaliesse Blincoe; H Bobby Gaspar; Luigi D Notarangelo; Eyal Grunebaum Journal: J Allergy Clin Immunol Date: 2018-09-05 Impact factor: 10.793