Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings

Shwachman-Diamond syndrome is a rare autosomal recessive multisystem disease characterized by pancreatic exocrine insufficiency, skeletal abnormalities, impaired hematopoiesis, and a predisposition to hematologic malignancies. Considerable phenotypic variability between individuals, as well as within the same individual over time, can make the diagnosis challenging. It is important to make the diagnosis because of the risk of infection, hematologic disturbances, and association with malignancy that require vigilance and close monitoring. We present PET/CT findings in a case of Shwachman-Diamond syndrome with non-Hodgkin lymphoma, the association that to the best of our knowledge has not been previously reported in the literature.