Total colonic aganglionosis.

This study is based on 17 neonates suffering from total colonic aganglionosis. The male:female ratio was 2:3 and there was a significant familial occurrence. The ages on admission varied between 1 and 90 days. The clinical presentation was extremely variable. Early diagnosis depends on clinical awareness of the condition in neonates who have intestinal obstruction or diarrhea, or both. The most important radiologic indication was retention of barium for 24 hours. Results of manometric studies were misleading. Suction biopsy of the rectum provided the only sure method of diagnosis, although determination of cholinesterase activity in the biopsy specimen and in the patient's serum was of some value. Two patients died before operation and two died from total colonic and small intestinal aganglionosis. Eight patients survived both the initial ileostomy and subsequent pull through operation. Of the various procedures utilized, the Lester Martin operation has proved to be the most satisfactory.