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Shwachman Diamond Syndrome: an emergency challenge


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:


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.


lipomatosis, SDS, diag-nosis, children

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