Shwachman--Diamond syndrome associated with autoimmune phenomena.
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.
Reif
S
S
Division of Pediatric Gastroenterology and Department of Pediatrics, Dana Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
Arav-Boger
R
R
Diamant
S
S
Burstein
Y
Y
Fatal
A
A
D000015:Abnormalities, Multiple / Q000276:immunology* / Q000473:pathology*; D015551:Autoimmunity / Q000276:immunology*; D002675:Child, Preschool; D004413:Dysostoses / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010490:Pericardial Effusion / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014463:Ultrasonography