Faculty Collaboration Database

Shwachman--Diamond syndrome associated with autoimmune phenomena. J Med 1999;30(3-4):259-65

Date

02/23/2007

Pubmed ID

17312679

Scopus ID

2-s2.0-0033510371 (requires institutional sign-in at Scopus site)   3 Citations

Abstract

A 2-year-old boy was evaluated for failure to thrive, hypotonia and developmental delay. The child exhibited all the criteria of Shwachman-Diamond syndrome, i.e., short stature, metaphyseal dysostosis, pancreatic insufficiency and neutropenia. Liver function tests were abnormal. Marked edema together with pericardial effusion appeared during the period of follow-up. Hypothyroidism attributed to autoimmune thyroiditis was diagnosed, and other autoantibodies were detected as well. We suggest that an autoimmune baseline profile and follow-up should be part of the work-up and management of patients with Shwachman-Diamond syndrome. Moreover, the finding of autoantibodies might offer a new insight towards understanding the pathogenesis of this condition.

Author List

Reif S, Arav-Boger R, Diamant S, Burstein Y, Fatal A

Author

Ravit Boger MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Autoimmunity
Child, Preschool
Dysostoses
Humans
Male
Pericardial Effusion
Radiography
Syndrome
Ultrasonography