A 14-year-old girl presented to our paediatric department in May, 2012, with massive abdominal distension that had developed over the previous 2 years. She reported chronic abdominal discomfort, alternating diarrhoea and constipation, and two previous subocclusive episodes that had resolved with laxative therapy. Plain abdominal radiographs showed substantial large bowel distension and several air–fluid levels. No air was evident in the rectum or anal canal (figure).She underwent surgery, and because no mechanical obstruction was observed a diverting ileostomy was done. Analysis of full-thickness large bowel and rectal biopsy samples obtained during surgery showed a decreased number of ganglion cells and acetylcholinesterase activity compatible with the diagnosis of hypoganglionosis. In November, 2012, she had large bowel resection, ileorectal anastomosis, and ileostomy repositioning. The postoperative course was characterised by progressive intestinal recanalisation, although she had persistent watery stools with faecal sodium loss. The resulting electrolyte imbalance was corrected with partial parenteral nutrition. The patient was discharged 2 months after the procedure and continued parenteral nutrition at home. She had a gradual reduction of watery diarrhoea so we tapered the partial parenteral nutrition and weaning was possible after 12 months. At last follow-up in July, 2014, the patient reported no more episodes of abdominal distension.Hypoganglionosis is classed as a hypogenetic type of intestinal innervation disorder characterised by very low or absent acetylcholinesterase mucosal activity and a decreased number of ganglion cells within the myenteric and submucosal plexus of a variable intestinal segment. The most common presenting symptoms of hypoganglionosis are acute constipation, intestinal obstruction, and enterocolitis. The disorder thus resembles Hirschsprung's disease, but clinical presentation might be subtle and misdiagnosed as chronic constipation. The median age at diagnosis is usually higher in patients with hypoganglionosis than Hirschsprung's disease. Definitive diagnosis requires the analysis of full-thickness biopsy sample of the affected intestinal segment. The treatment is surgical, involving resection of the hypoganglionotic tract of the intestine.ContributorsAll authors cared for the patient and contributed to writing of the report. Written consent to publication was obtained. A 14-year-old girl presented to our paediatric department in May, 2012, with massive abdominal distension that had developed over the previous 2 years. She reported chronic abdominal discomfort, alternating diarrhoea and constipation, and two previous subocclusive episodes that had resolved with laxative therapy. Plain abdominal radiographs showed substantial large bowel distension and several air–fluid levels. No air was evident in the rectum or anal canal (figure). She underwent surgery, and because no mechanical obstruction was observed a diverting ileostomy was done. Analysis of full-thickness large bowel and rectal biopsy samples obtained during surgery showed a decreased number of ganglion cells and acetylcholinesterase activity compatible with the diagnosis of hypoganglionosis. In November, 2012, she had large bowel resection, ileorectal anastomosis, and ileostomy repositioning. The postoperative course was characterised by progressive intestinal recanalisation, although she had persistent watery stools with faecal sodium loss. The resulting electrolyte imbalance was corrected with partial parenteral nutrition. The patient was discharged 2 months after the procedure and continued parenteral nutrition at home. She had a gradual reduction of watery diarrhoea so we tapered the partial parenteral nutrition and weaning was possible after 12 months. At last follow-up in July, 2014, the patient reported no more episodes of abdominal distension. Hypoganglionosis is classed as a hypogenetic type of intestinal innervation disorder characterised by very low or absent acetylcholinesterase mucosal activity and a decreased number of ganglion cells within the myenteric and submucosal plexus of a variable intestinal segment. The most common presenting symptoms of hypoganglionosis are acute constipation, intestinal obstruction, and enterocolitis. The disorder thus resembles Hirschsprung's disease, but clinical presentation might be subtle and misdiagnosed as chronic constipation. The median age at diagnosis is usually higher in patients with hypoganglionosis than Hirschsprung's disease. Definitive diagnosis requires the analysis of full-thickness biopsy sample of the affected intestinal segment. The treatment is surgical, involving resection of the hypoganglionotic tract of the intestine. Contributors All authors cared for the patient and contributed to writing of the report. Written consent to publication was obtained.