MRI findings in Shwachman diamond syndrome.
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
Antonio
A
Division of Pediatric Oncology, Catholic University of Rome, Rome, Italy. ruggiero@rm.unicatt.it
Molinari
Francesco
F
Coccia
Paola
P
Attinà
Giorgio
G
Maurizi
Palma
P
Riccardi
Riccardo
R
Bonomo
Lorenzo
L
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