A case of Shwachman-Diamond syndrome distinguished from celiac disease

oleh: Shin-ichiro Hagiwara, Arata Watanabe

Format: Article
Diterbitkan: MDPI AG 2012-09-01

Deskripsi

Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS that was difficult to distinguish from celiac disease because this is a valuable example of the variety in SDS presentation.