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Shwachman Diamond Syndrome: an emergency challenge

  • PAOLA COCCIA1
  • ANTONIO RUGGIERO1
  • GIORGIO ATTINÀ1
  • PALMA MAURIZI ILARIA LAZZARESCHI1
  • FRANCESCO MOLINARI2
  • RICCARDO RICCARDI1

1,Division of Paediatric Oncology. Pol. A. Gemelli Catholic University of Rome

2Department of Radiological Sciences, Catholic University of Rome

DOI: 10.22514/SV22.102007.2 Vol.2,Issue 2,October 2007 pp.10-13

Published: 20 October 2007

*Corresponding Author(s): ANTONIO RUGGIERO E-mail: ruggiero@rm.unicatt.it

Abstract

Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome.

Keywords

lipomatosis, SDS, diag-nosis, children

Cite and Share

PAOLA COCCIA,ANTONIO RUGGIERO,GIORGIO ATTINÀ,PALMA MAURIZI ILARIA LAZZARESCHI,FRANCESCO MOLINARI,RICCARDO RICCARDI. Shwachman Diamond Syndrome: an emergency challenge. Signa Vitae. 2007. 2(2);10-13.

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