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Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.

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.

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