Journal of Pediatric Surgery
Volume 44, Issue 10 , Pages 1899-1903 , October 2009

Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease

  • Samuel W. Moore

      Affiliations

    • Division of Pediatric Surgery, University of Stellenbosch, Faculty of Health Sciences, Tygerberg, South Africa
    • Corresponding Author InformationCorresponding author. Faculty of Medicine, Department of Pediatric Surgery, University of Stellenbosch, PO Box 19063, Tygerberg 7505, South Africa. Tel.: +27 21 9389428; fax: +27 21 9389119.
    • ,
  • Monique Zaahl

      Affiliations

    • Division of Human Genetics, University of Stellenbosch, South Africa

Received 10 December 2008 ,Revised 15 April 2009 ,Accepted 17 April 2009.

References 

  1. Cass D, Myers N. Total colonic aganglionosis: 30 years experience. Pediatr Surg Int. 1987;2:68–75
  2. Moore SW, Rode H, Millar AJ, et al. Familial aspects of Hirschsprungs disease. Eur J Pediat Surg. 1991;1:97–107
  3. Davies MR, Cywes S, Rode H. The manometric evaluation of the rectosphincteric reflex in total colonic aganglionosis. J Pediatr Surg. 1981;16:660–663
  4. Festen C, Severijnen RS, vd Staak F, et al. Total colonic aganglionosis: treatment and follow-up. Z Kinderchir. 1988;44:153–155
  5. Bodian M, Carter CO, Ward BCH. Hirschsprungs disease. Lancet. 1951;i:302–309
  6. Louw JH. Total colonic aganglionosis. Can J Surg. 1971;21:397–405
  7. Freeman NV. Long segment Hirschsprungs disease. Proc R Soc Med. 1971;64:30–32
  8. Martin LW. Surgical management of total colonic aganglionosis. Ann Surg. 1972;176:343–346
  9. Hoehner JC, Ein SH, Shandling B, et al. Long-term morbidity in total colonic aganglionosis. J Pediatr Surg. 1998;33:961–965
  10. Senyuz OF, Buyukunal C, Danismend N, et al. Extensive intestinal aganglionosis. J Pediatr Surg. 1989;24:453–456
  11. Sharif K, Beath SV, Kelly DA, et al. New perspective for the management of near-total or total intestinal aganglionosis in infants. J Pediatr Surg. 2003;38:25–28
  12. 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
  13. Lefebvre MP, Leape LL, Pohl DA, et al. Total colonic aganglionosis initially diagnosed in an adolescent. Gastroenterology. 1984;87:1364–1366
  14. Lall A, Agarwala S, Bhatnagar V, et al. Total colonic aganglionosis: diagnosis and management in a 12-year-old boy. J Pediatr Surg. 1999;34:1413–1414
  15. Myers MB, Bradburn D, Vela R, et al. Total aganglionic colon in an adult: first reported case. Ann Surg. 1966;163:97–102
  16. Hofstra RM, Osinga J, Buys CH. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. Eur J Hum Genet. 1997;5:180–185
  17. Ceccherini I, Zhang AL, Matera I, et al. Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat. Hum Mol Genet. 1995;4:2089–2096
  18. Gariepy CE, Cass DT, Yanagisawa M. Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. Proc Natl Acad Sci USA. 1996;93:867–872
  19. Ou-Yang MC, Yang SN, Hsu YM, et al. Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. J Pediatr Surg. 2007;42:e9–e11
  20. Meier-Ruge W, Lutterbeck PM, Herzog B, et al. Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung's disease. J Pediatr Surg. 1972;7:11–17
  21. Anupama B, Zheng S, Xiao X. Ten-year experience in the management of total colonic aganglionosis. J Pediatr Surg. 2007;42:1671–1676
  22. Moore SW. A study of the etiology of post-surgical obstruction in patients with Hirschsprungs disease. Doctor of Medicine thesis, University of Cape Town 1993;1-375.
  23. Solari V, Piotrowska AP, Puri P. Histopathological differences between recto-sigmoid Hirschsprung's disease and total colonic aganglionosis. Pediatr Surg Int. 2003;19:349–354
  24. Kapur RP. Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos. Pediatr Dev Pathol. 1999;2:559–569
  25. Meyrat BJ, Laurini RN. Plasticity of the enteric nervous system in patients with intestinal neuronal dysplasia associated with Hirschsprung's disease: a report of three patients. Pediatr Surg Int. 2003;19:715–720
  26. Turrigiano GG, Nelson SB. Homeostatic plasticity in the developing nervous system. Nat Rev Neurosci. 2004;5:97–107
  27. von Boyen GB, Reinshagen M, Steinkamp M, et al. Enteric nervous plasticity and development: dependence on neurotrophic factors. J Gastroenterol. 2002;37:583–588
  28. Furness JB. The enteric nervous system: normal functions and enteric neuropathies. Neurogastroenterol Motil. 2008;20(Suppl 1):32–38
  29. 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(4):278–284
  30. Jing S, Wen D, Yu Y, et al. GDNF-induced activation of the RET protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF. Cell. 1996;85:1113–1124
  31. Bordeaux MC, Forcet C, Granger L, et al. The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease. EMBO J. 2000;19:4056–4063
  32. Stenqvist A, Lundgren TK, Smith MJ, et al. Subcellular receptor redistribution and enhanced microspike formation by a Ret receptor preferentially recruiting Dok. Neurosci Lett. 2008;435:11–16

PII: S0022-3468(09)00373-X

doi: 10.1016/j.jpedsurg.2009.04.026

Journal of Pediatric Surgery
Volume 44, Issue 10 , Pages 1899-1903 , October 2009

Article Tools

* Image Usage & Resolution