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Signa vitae : journal for intesive care and emergency medicine, Vol. 2 No. 2, 2007.

Review article

Shwachman Diamond Syndrome: an emergency challenge

Paola Coccia ; Division of Paediatric Oncology; Pol. A. Gemelli; Catholic University of Rome; Largo A. Gemelli 8; 00168 Roma, Italy
Antonio Ruggiero ; Division of Paediatric Oncology; Pol. A. Gemelli; Catholic University of Rome; Largo A. Gemelli 8; 00168 Roma, Italy
Giorgio Attina ; Division of Paediatric Oncology; Pol. A. Gemelli; Catholic University of Rome; Largo A. Gemelli 8; 00168 Roma, Italy
Palma Maurizi ; Division of Paediatric Oncology; Pol. A. Gemelli; Catholic University of Rome; Largo A. Gemelli 8; 00168 Roma, Italy
Ilaria Lazzareschi ; Division of Paediatric Oncology; Pol. A. Gemelli; Catholic University of Rome; Largo A. Gemelli 8; 00168 Roma, Italy
Francesco Molinari ; Department of Radiological Sciences, Catholic University of Rome, Rome, Italy
Riccardo Riccardi ; Division of Paediatric Oncology; Pol. A. Gemelli; Catholic University of Rome; Largo A. Gemelli 8; 00168 Roma, Italy

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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; diagnosis; children

Hrčak ID:

17023

URI

https://hrcak.srce.hr/17023

Publication date:

1.10.2007.

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