hirschsprung_disease

Hirschsprung’s Disease:

Hirschsprung’s disease, know as “HD”, or congenital aganglionic megacolon, involves an aganglionic section of bowel[1] (the normal enteric nerves are absent) that starts at the anus and progresses proximally.

The length of bowel that is affected varies but seldom stretches for more than about 30 cm. It arises when certain nerve cells in the gut (called ganglion cells) fail to develop and mature correctly.

The end result is a section of bowel that is essentially paralyzed


Diagnosis


Hirschsprung’s disease is suspected in a baby who has not passed meconium within 48 hours of delivery. Normally, 90% of babies pass their first meconium within 24 hours, and 99% within 48 hours. Definitive diagnosis is made by suction biopsy of the distally narrowed segment.  Diagnostic techniques involve anorectal manometry,[11] barium enema, and rectal biopsy. Radiologic findings may also assist with diagnosis.[12] (Refer to Diagnosis, Test, Procedures for more info on Diagnostic techniques).


 

Treatment


Treatment of Hirschsprung’s disease consists of surgical removal (resection) of the abnormal section of the colon, followed by reanastomosis. There used to be two steps typically used to achieve this goal.

  • The first stage used to be a colostomy. When a colostomy is performed, the large intestine is cut and an opening is made through the abdomen. This allows bowel contents to be discharged into a bag.
  • Later, when the child’s weight, age, and condition is right, a pull-through procedure is performed.

Orvar Swenson, the same man who discovered the cause of Hirschsprung’s, first performed it in 1948.[13] The pull-through procedure repairs the colon by connecting the functioning portion of the bowel to the anus. The pull through procedure is the typical method for treating Hirschsprung’s in younger patients. Swenson devised the original procedure, but the pull-through surgery has been modified many times.

The Swenson, Soave, Duhamel, and Boley procedures all vary slightly from each other:

  • The Swenson procedure leaves a small portion of the diseased bowel.
  • The Soave procedure leaves the outer wall of the colon unaltered. The Boley procedure is just a small modification of the Soave procedure. The term “Soave-Boley” procedure is sometimes used.[14][15]
  • The Duhamel procedure uses a surgical stapler to connect the good and bad bowel.

Of those 15% of children who do not obtain full control, various other treatments are available. If constipation is the problem then usually laxatives or a high fiber diet will overcome the problem. If lack of control is the problem then a stoma may be necessary. The ACE or Malone is also an answer. This is where a tube goes through the abdominal wall to the appendix, or if available, to the colon. Then once a day the bowel is flushed. Children as young as 6 do fine with administering this on their own.

If the affected portion of the lower intestine is restricted to the lower portion of the rectum, other surgical procedures, such as the posterior rectal myectomy, can be performed.


Additional Information on Hirscsprung’s Disease


Hirschsprung’s disease can also present as part of a syndrome in Waardenburg-Shah syndromeMowat-Wilson syndromeGoldberg-Shpritzen megacolon syndrome, andcongenital central hypoventilation syndrome.[9]

Hirschsprung’s disease, hypoganglionosis, gut dysmotility, gut transit disorders and intussusception have been recorded with the dominantly inherited neurovisceral porphyrias (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria). Children may require enzyme or DNA testing for these disorders as they may not produce or excrete porphyrins prepuberty.

With an incidence of 1/5000 births, the most cited feature is absence of ganglion cells: notably in males, 75% have none in the recto-sigmoid, and 8% with none in the entire colon. The enlarged section of the bowel is found proximally, while the narrowed, aganglionic section is found distally; the absence of ganglion cells results in a persistent over-stimulation of nerves within the affected region, resulting in contraction.

1) Delayed passage of meconium.

2) Abdominal distension.

3) Constipation.

According to a 1984 study, Hirshsprung’s disease appears on 18.6 per 100.000 livebirths. It is more common in male rather than female (4.32:1) and in non-white rather than white (1.67:1). 9% of the Hirschsprung cases were also diagnosed as having Down’s Syndrome[8]


References


  1. ^ Pagon RA, Bird TC, Dolan CR, Stephens K, Parisi MA. PMID 20301612.
  2. ^ Alexander M. Holschneider; Prem Puri (13 December 2007). Hirschsprung’s Disease and Allied Disorders. シュプリンガー・ジャパン株式会社.ISBN 9783540339342. Retrieved 10 November 2010.
  3. ^ synd/1163 at Who Named It?
  4. ^ H. Hirschsprung. Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons. Jahrbuch für Kinderheilkunde und physische Erziehung, Berlin, 1888, 27: 1-7.
  5. ^ Worman S, Ganiats TG (February 1995). “Hirschsprung’s disease: a cause of chronic constipation in children”. Am Fam Physician 51 (2): 487–94.PMID 7840044.
  6. ^ Angrist M, Kauffman E, Slaugenhaupt SA, et al. (August 1993). “A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10”. Nat. Genet. 4 (4): 351–6. doi:10.1038/ng0893-351.PMID 8401581.
  7. ^ Lyonnet S, Bolino A, Pelet A, et al. (August 1993). “A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10”. Nat. Genet. 4 (4): 346–50.doi:10.1038/ng0893-346PMID 8401580.
  8. ^ Goldberg E L (Johns Hopkins University, School of Hygiene and Public Health, 615 North Wolfe Street, Baltimore, Maryland 21205, USA). An epidemiological study of Hirschsprung’s Disease. International Journal of Epidemiology 1984, 13: 479–485.http://ije.oxfordjournals.org/content/13/4/479.abstract
  9. ^ Online ‘Mendelian Inheritance in Man’ (OMIM) 142623
  10. ^ Puri P, Shinkai T (February 2004). “Pathogenesis of Hirschsprung’s disease and its variants: recent progress”. Semin. Pediatr. Surg. 13 (1): 18–24. PMID 14765367.
  11. ^ Eli Ehrenpreis (October 2003). Anal and rectal diseases explained. Remedica. pp. 15–. ISBN 9781901346671. Retrieved 10 November 2010.
  12. ^ Kim HJ, Kim AY, Lee CW, et al. (May 2008). “Hirschsprung disease and hypoganglionosis in adults: radiologic findings and differentiation”. Radiology 247(2): 428–34. doi:10.1148/radiol.2472070182PMID 18430875.
  13. ^ Swenson O (August 1989). “My early experience with Hirschsprung’s disease”. J. Pediatr. Surg. 24 (8): 839–44; discussion 844–5. PMID 2671336.
  14. ^ W. Allan Walker (1 July 2004). Pediatric gastrointestinal disease: pathophysiology, diagnosis, management. PMPH-USA. pp. 2120–. ISBN 9781550092400. Retrieved 10 November 2010.
  15. ^ Timothy R. Koch (2003). Colonic diseases. Humana Press. pp. 387–.ISBN 9780896039612. Retrieved 10 November 2010.