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MRI findings in Shwachman diamond syndrome
Author(s) -
Ruggiero Antonio,
Molinari Francesco,
Coccia Paola,
Attinà Giorgio,
Maurizi Palma,
Riccardi Riccardo,
Bonomo Lorenzo
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21109
Subject(s) - medicine , exocrine pancreatic insufficiency , lipomatosis , blood cancer , magnetic resonance imaging , pancreatic cancer , bone marrow , radiology , pathology , pancreas , gastroenterology , cancer
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. Pediatr Blood Cancer 2008;50:352–354. © 2006 Wiley‐Liss, Inc.