Patient Characteristics

The first child of non-consanguineous Dutch parents, a boy, presented shortly after birth with biliary vomiting. One day post-partum, an abdominal X-ray showed distended bowel loops without air in the rectum. A contrast study was performed and showed slow passage from stomach to duodenum. A laparotomy also showed distended small bowel loops, which gradually tapered to a small lumen. Full-thickness biopsies were taken on different sites of the intestine, which showed normal ganglion cells, ruling out HSCR. Since this procedure, spontaneous passage of feces was hardly seen. At a few months of age, an antro-duodenal manometry study was performed overnight, showing abnormal small bowel motor activity, suggestive of a neuropathic phenotype. Unfortunately, colonic manometry was aborted due to a small caliber colon and risk of bleeding and perforation. A venting gastrotomy was performed to discharge gastric fluid. Currently, the patient is still alive, but total parenteral nutrition is given to support feeding. Informed consent was obtained from the parents for diagnostic genetic analysis.