Total colonic aganglionosis in children: clinical manifestations, diagnosis, treatment and outcome

Abstract

Objective To explore the clinical features, diagnosis and treatments of total colonic aganglionosis(TCA) in children. Methods We retrospectively analyzed the clinical data of 41 children with TCA (including 31 boys and 10 girls), who were diagnosed and treated in our department between January 2010 and June 2018. Results The clinical manifestations of the 41 children with TCA included abdominal distention (90.2%), defecation delay (82.9%), vomiting (65.9%) and constipation (63.4%), showing no significant differences from those seen in other types of Hirschsprung's disease (P>0.05). Thirty-three of the children received barium enema before operation, and the results suggested TCA in only 7 (21.2%) children; delayed barium emptying and marked small intestinal distension were observed in 32 of the children. Preoperative anorectal manometry showed a positive rate of 71.4%, and the positive rate of rectal mucosal biopsy was 100% in these children. Thirty-eight of the children underwent surgeries and 25 were cured after the operation. Twenty-one of the surgically cured children were followed up. The intraoperative findings of the intestines revealed terminal ileum stenosis in 7 (18.4%) children, total colonic stenosis in 5 (13.2%) children, terminal ileum and total colonic stenosis in 24 (63.2%) children, and no obvious stenosis in the ileum or the colon in 2 (5.3%) children. Postoperative pathological results supported the diagnosis of TCA in all the surgically treated cases. Enterocolitis (47.6%) was the major complication after radical surgery. Fourteen of the children were evaluated for quality of life score, and 10(71.4%) of them reported excellent and 4(28.6%) reported good quality of life. Conclusion The clinical diagnosis of TCA is difficult, and barium enema has only a limited diagnostic value. A definite diagnosis of TCA can be established by surgical exploration combined with pathological examination. Surgical intervention and standardized postoperative treatment can achieve good long-term outcomes in the children with TCA.

Keywords

• total colonic aganglionosis
• diagnosis
• treatment
• prognosis