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Pediatric Radiology
Published in: Pediatric Radiology 5/2013

01-05-2013 | Original Article

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

Authors: David Manson, Lauren Diamond, Kamaldine Oudjhane, Faisal Bin Hussain, Chaim Roifman, Eyal Grunebaum

Published in: Pediatric Radiology | Issue 5/2013

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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.

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.
Literature
1.
Hirschhorn R (1990) Adenosine deaminase deficiency. Immunodefic Rev 2:175–198PubMed
2.
Wolfson JJ, Cross VF (1975) The radiographic findings in forty-nine patients with combined immunodeficiency. In: Meuwissen HJ, Pickering RJ, Pollara B et al (eds) Combined immunodeficiency disease and adenosine deaminase deficiency. Academic, New York, pp 255–291
3.
Chakravarti VS, Borns P, Lobell J et al (1991) Chondroosseous dysplasia in severe combined immunodeficiency due to adenosine deaminase deficiency. Pediatr Radiol 21:445–448CrossRef
4.
Cederbaum SD, Kaitila I, Rimoin DL et al (1976) The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency. J Pediatr 89:737–742PubMedCrossRef
5.
Wortmann RL, Veum JA, Cheung HS (1986) Adenosine deaminase deficiency and chondro osseous dysplasia. Adv Exp Med Biol 195:81–83PubMedCrossRef
6.
Roifman CM, Melamed I (2003) A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. Clin Genet 63:522–529PubMedCrossRef
7.
Mortier GR, Rimoin DL, Lachman RS (1997) The scapula as a window to the diagnosis of skeletal dysplasias. Pediatr Radiol 27:447–451PubMedCrossRef
Metadata
Title
Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life
Authors
David Manson
Lauren Diamond
Kamaldine Oudjhane
Faisal Bin Hussain
Chaim Roifman
Eyal Grunebaum
Publication date
01-05-2013
Publisher
Springer-Verlag
Published in
Pediatric Radiology / Issue 5/2013
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-012-2564-2

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