A case of Shwachman-Diamond syndrome distinguished from celiac disease

Abstract

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.

Keywords

• Shwachman-Diamond syndrome
• Celiac disease
• Villous atrophy