RT Journal Article SR Electronic T1 Enteropathic histopathological features may be associated with Shwachman–Diamond syndrome JF Journal of Clinical Pathology JO J Clin Pathol FD BMJ Publishing Group Ltd and Association of Clinical Pathologists SP 592 OP 594 DO 10.1136/jcp.2010.077677 VO 63 IS 7 A1 N Shah A1 H Cambrook A1 J Koglmeier A1 C Mason A1 P Ancliff A1 K Lindley A1 V V Smith A1 M Bajaj-Elliott A1 N J Sebire YR 2010 UL http://jcp.bmj.com/content/63/7/592.abstract AB Aim To review the gastrointestinal mucosal histological features of biopsies from children with Shwachman–Diamond syndrome (SDS) examined at a single specialist centre.Methods Search of a clinical database was performed to identify SDS cases and their gastrointestinal biopsies were reviewed for morphological parameters such as crypt:villous ratio, crypt hyperplasia and abnormal inflammatory infiltrates. Histological sections were also immunostained with CD4, CD20 and HLA-DR to determine the nature of the inflammatory infiltrate.Results 15 SDS cases were included, 7 (47%) of which showed morphologically normal duodenal villous architecture, whereas 8 (53%) showed varying degrees of enteropathic histological features ranging from villous blunting to partial villous atrophy and duodenitis. 11/15 (73%) showed some degree of duodenal inflammation, including increased lamina propria density of plasma cells, macrophages and eosinophils.Conclusion Varying degrees of duodenal inflammatory enteropathic features are present in more than 50% of symptomatic children with SDS. This suggests that, in addition to pure pancreatic exocrine failure, an enteropathic component may contribute to symptoms in some cases, and be potentially responsive to appropriate therapy.