Long-Term Outcome of Total Colonic Aganglionosis

Abstract

Purpose: No single surgical procedure for total colonic aganglionosis has clearly been proven to be superior. We present our experience and the long-term results of a standard Duhamel's pull-through procedure in the management of this rare form of Hirschsprung's disease. Material and Methods: A retrospective study of all cases with Hirschsprung's disease diagnosed in our institute from November 1983 to December 2004 was conducted. All operated patients with total colonic aganglionosis (TCA) had a diversion in the first week of life. Duhamel's pull-through was the definitive procedure for all operated patients and was performed between 6 months and 1 year of age. All patients and their parents were contacted for an extended follow-up, ranging between 30 months and 21 years. Incontinence was assessed on the basis of soiling in the diaper between two consecutive defecations in the younger group of patients and the need for a diaper in the older age group. Hirschsprung's enteritis was regarded as severe if the patient's condition did not improve on conservative management and the patient needed an ileostomy post-pull-through. Results: Thirty-six cases with Hirschsprung's disease were diagnosed during the study period. Twelve patients (31.4 %) had total colonic aganglionosis, confirmed at laparotomy, and underwent a diversion. Eight underwent definitive surgery during the first year of life. All operated patients had a standard Duhamel's pull-through as the definitive procedure. Four cases were not operated: two had Waardenburg syndrome with lethal total aganglionosis, one had multiple anomalies, and the last patient with mid-jejunal involvement died while awaiting a definitive procedure. Familial incidence was apparent in two sets of siblings. Leakage followed by stricture occurred in one patient. Hirschsprung's enteritis was diagnosed in three patients. In two, the enteritis was mild, while one patient required an ileostomy which was performed elsewhere. Half of our patients have an almost normal number of daily bowel movements (1 – 2 times). Conclusions: The long-term results of a standard Duhamel's pull-through for TCA are good in terms of continence, bowel motion, and physical development.

TCA - aganglionosis - Duhamel's procedure - pull‐through

References

• 1 Applebaum H, Richardson R J, Wilkinson G A, Warden M J. Alternative operative procedure for total colonic aganglionosis.  J Pediatr Surg. 1988;  23 49-51
• 2 Emslie J, Krishnamoorthy M, Applebaum H. Long-term follow-up of patients treated with ileoendorectal pull-through and right colon onlay patch for total colonic aganglionosis.  J Pediatr Surg. 1997;  32 1542-1544
• 3 Endo M, Masuyama H, Watanabe K, Ikawa H, Yokoyama J, Kitajima M. Motor activity of refashioned colo-recto-anus in patients with total colonic aganglionosis.  J Pediatr Surg. 1996;  31 283-290
• 4 Endo M, Watanabe K, Fuchimoto Y, Ikawa H, Yokoyama J. Long-term results of surgical treatment in infants with total colonic aganglionosis.  J Pediatr Surg. 1994;  29 1310-1314
• 5 Fouquet V, De Lagausie P, Faure C, Bloch J, Malbezin S, Ferkhadji L, Bauman C, Aigrain Y. Do prognostic factors exist for total colonic aganglionosis with ileal involvement?.  J Pediatr Surg. 2002;  37 71-75
• 6 Hoehner J C, Ein S H, Shandling B, Kim P C. Long-term morbidity in total colonic aganglionosis.  J Pediatr Surg. 1998;  33 961-965 965-966
• 7 Ikawa H, Masuyama H, Hirabayashi T, Endo M, Yokoyama J. More than 10 years' follow-up to total colonic aganglionosis – severe iron deficiency anemia and growth retardation.  J Pediatr Surg. 1997;  32 25-27
• 8 Ikeda K, Goto S. Total colonic aganglionosis with or without small bowel involvement: an analysis of 137 patients.  J Pediatr Surg. 1986;  21 319-322
• 9 Inoue K, Shimotake T, Iwai N. Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement.  Am J Med Genet. 2000;  93 278-284
• 10 Ludman L, Spitz L, Tsuji H, Pierro A. Hirschsprung's disease: functional and psychological follow up comparing total colonic and rectosigmoid aganglionosis.  Arch Dis Child. 2002;  86 348-351
• 11 Nichol P F, Harms B A, Go L L, Lund D P. Ileo-anal S-pouch reconstruction in patients with total colonic aganglionosis after failed pull-through procedure.  J Pediatr Surg. 2004;  39 e7-e9
• 12 Ross M N, Chang J H, Burrington J D, Janik J S, Wayne E R, Clevenger P. Complications of the Martin procedure for total colonic aganglionosis.  J Pediatr Surg. 1988;  23 725-727
• 13 Solari V, Piotrowska A P, Puri P. Histopathological differences between recto-sigmoid Hirschsprung's disease and total colonic aganglionosis.  Pediatr Surg Int. 2003;  19 349-354
• 14 Suita S, Taguchi T, Kamimura T, Yanai K. Total colonic aganglionosis with or without small bowel involvement: a changing profile.  J Pediatr Surg. 1997;  32 1537-1541
• 15 Tomiyama H, Shimotake T, Ono S, Kimura O, Tokiwa K, Iwai N. Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement.  J Pediatr Surg. 2001;  36 1685-1688
• 16 Tsuji H, Spitz L, Kiely E M, Drake D P, Pierro A. Management and long-term follow-up of infants with total colonic aganglionosis.  J Pediatr Surg. 1999;  34 158-161 162