[Shwachman-Diamond syndrome--a diagnostic challenge]

Abstract

Shwachman-Diamond syndrome is a rare autosomal recessive disorder caused by mutations in the SBDS gene. The cardinal symptoms arise from exocrine pancreatic insufficiency and bone marrow dysfunction. These lead to malabsorption and haematological abnormalities, susceptibility to infections and to increased risk of leukaemia. Skeletal involvement presents as growth failure, metaphyseal dysplasia and osteoporosis. The majority of patients also have liver dysfunction, learning difficulties and oral and dental problems. Although the disease typically presents in early childhood, phenotypic features change over time and the diagnosis becomes more challenging.