Shwachman-Diamond syndrome

Olya Polishchuk

Mary Wyers, M.D.

Children's Memorial Hospital

Abstract

3 year old with weight loss and hepatomegaly

Keywords

Shwachman-Diamond syndrome, CT 328

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Publication Date: 2004-08-19

History

3 year old with weight loss and hepatomegaly

Findings

There is a large, fatty replaced liver. There is extensive lipomatosis on the pancreas which is enlarged and globally replaced with fat.

Diagnosis

Shwachman-Diamond syndrome

Differential

Cystic fibrosis.

Discussion

Shwachman-Diamond syndrome is a presumed autosomal recessive condition associated with exocrine pancreatic insufficiency with fat replacement of the pancreas, short stature, bone marrow dysfunction with neutropenia, and metaphyseal chondrodysplasia. It presents in infancy but its radiographic features are relatively mild.

Skeletal manifestations include delayed bone age with marked carpal delay, broad cup-like anterior ribs, metaphyseal irregularities, and coxa vara with short femoral necks. CT or MRI demonstration of a fat-replaced pancreas may be useful in establishing the diagnosis. Recurrent infections are related to neutropenia, chemotactic defect, impaired neutrophil mobility, and impaired complement activation. Patients with Shwachman-Diamond syndrome have an increased incidence of leukemia.

References

1. Kuhn, J.P., Slovis, T.L., Haller, J.O., CAFFEY'S PEDATRIC DIAGNOSTIC IMAGING, Elsevier, Inc., 2004, 2215.