MRI findings in Scwachman diamond syndrome.

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)352-354
Numero di pagine3
RivistaPEDIATRIC BLOOD & CANCER
Volume50
Stato di pubblicazionePubblicato - 2008

Keywords

  • MRI finding
  • Schwachman diamond syndrome

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