Isolated intestinal myopathy resembling progressive systemic sclerosis in a child

A 15-yr-old girl had a life-threatening episode of toxic megacolon at age 6 yr and a life-long history of constipation and abdominal distention. A diagnosis of chronic intestinal pseudoobstruction was made. Her clinical course was that of repeated bouts of pseudoobstruction, multiple episodes of intestinal volvulus at different sites, and progressive cachexia. Histologic examination of specimens of jejunum, ileum, appendix, and colon revealed progressive fibrotic changes in intestinal smooth muscle. The abnormalities observed are most consistent with those described in progressive systemic sclerosis, but no cutaneous manifestations of this disorder have been noted in this child, and no abnormalities in other organs have been detected. Thus, this patient represents a childhood case of chronic intestinal pseudoobstruction caused by a disorder closely resembling progressive systemic sclerosis confined to the gastrointestinal tract.