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Shwachman Diamond Syndrome: an emergency challenge

Author(s): Paola Coccia | Antonio Ruggiero | Giorgio Attina | Palma Maurizi | Ilaria Lazzareschi | Francesco Molinari | Riccardo Riccardi

Journal: Signa Vitae
ISSN 1334-5605

Volume: 2;
Issue: 2;
Start page: 10;
Date: 2007;
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Keywords: lipomatosis | SDS | diagnosis | children

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.

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