Shwachman Diamond Syndrome (SDS) is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and skeletal changes. Because of the heterogeneous clinical presentation and the limits of laboratory tests that assess pancreatic insufficiency, the diagnosis of SDS can be challenging. Pancreatic lipomatosis, a typical feature of this syndrome, is also difficult to assess by direct tissue sampling. In these circumstances, magnetic resonance imaging (MRI) provides a readily available, noninvasive tool to evaluate the pancreatic fat content. We report a case of a 12-month-old male in which abdominal MRI was used to confirm the clinical diagnosis of SDS.

Ruggiero, A., Molinari, F., Coccia, P., Attinà, G., Maurizi, P., Riccardi, R., Bonomo, L., MRI findings in Scwachman diamond syndrome., <<PEDIATRIC BLOOD & CANCER>>, 2008; 50 (2): 352-354 [http://hdl.handle.net/10807/19003]

MRI findings in Scwachman diamond syndrome.

Ruggiero, Antonio;Molinari, Francesco;Coccia, Paola;Maurizi, Palma;Riccardi, Riccardo;Bonomo, Lorenzo
2008

Abstract

Shwachman Diamond Syndrome (SDS) is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and skeletal changes. Because of the heterogeneous clinical presentation and the limits of laboratory tests that assess pancreatic insufficiency, the diagnosis of SDS can be challenging. Pancreatic lipomatosis, a typical feature of this syndrome, is also difficult to assess by direct tissue sampling. In these circumstances, magnetic resonance imaging (MRI) provides a readily available, noninvasive tool to evaluate the pancreatic fat content. We report a case of a 12-month-old male in which abdominal MRI was used to confirm the clinical diagnosis of SDS.
eng
Ruggiero, A., Molinari, F., Coccia, P., Attinà, G., Maurizi, P., Riccardi, R., Bonomo, L., MRI findings in Scwachman diamond syndrome., <>, 2008; 50 (2): 352-354 [http://hdl.handle.net/10807/19003]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/19003
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