Barium enema findings in type I hepatorenal glycogen storage disease

Four children with Type I hepatorenal glycogen storage have been studied by barium enema. All showed strikingly similar changes of a smooth-walled, slightly narrow but normal length colon without any haustration. The findings simulated colitis but the patients had either mild diarrhea or no gastrointestinal complaints. Small bowel series was normal. Endoscopy and biopsy failed to provide an adequate explanation, there being no evidence of glycogen storage in the biopsy material and the degree of colitis in two patients who were endoscoped was minimal. The explanation for these radiographic findings is not known at present, although they have similarities to the "cathartic colon syndrome" described in adults.