title: MRI findings in Shwachman diamond syndrome.
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.
authors.affiliation: Division of Pediatric Oncology, Catholic University of Rome, Rome, Italy. ruggiero@rm.unicatt.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Ruggiero
authors.forename: Francesco
authors.initials: F
authors.lastname: Molinari
authors.forename: Paola
authors.initials: P
authors.lastname: Coccia
authors.forename: Giorgio
authors.initials: G
authors.lastname: Attinà
authors.forename: Palma
authors.initials: P
authors.lastname: Maurizi
authors.forename: Riccardo
authors.initials: R
authors.lastname: Riccardi
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Bonomo
mesh_terms: D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome