Document Detail


MRI findings in Shwachman diamond syndrome.
MedLine Citation:
PMID:  17183583     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Antonio Ruggiero; Francesco Molinari; Paola Coccia; Giorgio Attinà; Palma Maurizi; Riccardo Riccardi; Lorenzo Bonomo
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  50     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2007-12-12     Completed Date:  2008-01-10     Revised Date:  2009-01-12    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  352-4     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Affiliation:
Division of Pediatric Oncology, Catholic University of Rome, Rome, Italy. ruggiero@rm.unicatt.it
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MeSH Terms
Descriptor/Qualifier:
Bone Marrow Diseases / diagnosis*,  metabolism,  pathology
Exocrine Pancreatic Insufficiency / diagnosis*,  metabolism,  pathology
Humans
Infant
Magnetic Resonance Imaging
Male
Syndrome

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