PURPOSE: Intestinal neuronal dysplasia (IND) causes intestinal pseudo-obstruction and shares clinical features with Hirschsprung's disease. Diagnosis of IND involves histopathological features of an intestinal biopsy, but diagnostic criteria are controversial and optimal treatment is unclear. We determined the pathological findings for diagnosing IND in infants and the significance of surgical treatment. METHODS: We retrospectively studied 4 patients who received bowel surgery for an intestinal obstruction without a definite obstructive cause that were subsequently diagnosed as IND by postoperative pathology. The clinical history and results of immunohistochemistry for ganglion and nerve fibers (NCAM, NSE, cathepsin D, synaptophysin) were compared between patients and control cases. RESULTS: All 4 patients were premature babies with symptoms of poor oral intake and abdominal distention. Surgical treatment was segmental resection of the small bowel in one case, segmental resection of the small bowel and double-barreled ileostomy in one case with NEC, and a temporary ileostomy for decompression and appendectomy for biopsy in 2 cases. The first 2 patients died of sepsis and DIC, respectively. The postoperative course of the other 2 patients was excellent for long-term follow up (30+/-6months). Patients with IND showed significantly more submucosal giant plexuses and ganglia in the submucosal plexus, a higher percentage of giant plexus in the 20 submucosal plexus, as well as increased incidence of heterotopic ganglia in the lamina propria, bud-like ganglia, anisomorphic ganglia, and immature ganglia. CONCLUSION: Proper surgical treatment of persistent intestinal pseudo-obstruction, including IND, can affect the prognosis and recovery of bowel function, with positive pathological findings helpful for diagnosing IND in infancy.
Appendectomy ; Biopsy ; Cathepsin D ; Dacarbazine ; Decompression ; Follow-Up Studies ; Ganglia ; Ganglion Cysts ; Hirschsprung Disease ; Humans ; Ileostomy ; Immunohistochemistry ; Incidence ; Infant ; Intestinal Obstruction ; Intestinal Pseudo-Obstruction ; Mucous Membrane ; Nerve Fibers ; Neurons ; Prognosis ; Retrospective Studies ; Sepsis ; Submucous Plexus