Isolated hypoganglionosis: Results of a nationwide survey in Japan

Purpose: This study analyzes how isolated hypoganglionosis (IH) is diagnosed and treated in Japanese pediatric surgical departments. Methods: A second questionnaire was sent to 90 pediatric surgical departments that took part in an initial survey on variant Hirschsprung's disease. Results: Of 109 cases registered as having a certain diagnosis of IH, we targeted 90 patients and excluded the remaining 19. Symptom onset was neonatal ileus with a male:female ratio of 34:56. In most cases, results from radio-contrast enemas and suction rectal biopsies were normal. Anorectal manometry demonstrated that there was no relaxation in 73 % of the 37 patients examined. Furthermore, out of 55 patients who were examined intraoperatively, IH was diagnosed or suspected in 29 cases. Another 12 cases were eventually diagnosed with IH by other institutions using paraffin-embedded specimens. Stomas were initially created in 89 out of 90 cases and the mortality rate of the group that initially received jejunostomies was significantly lower than that of the ileostomy group (p < 0.05). Conclusion: Preoperative diagnosis of IH is often difficult and intraoperative biopsies were only able to provide a correct diagnosis in 52 % of cases. More accurate diagnosis and the initial creation of jejunostomies rather than ileostomies may assist in improving patient management and outcomes.