hirschsprung_disease

Hirschsprung’s Disease:

Hirschsprung’s disease, commonly referred to as “HD” or congenital aganglionic megacolon, is characterized by a segment of the bowel[1] lacking normal enteric nerves, starting from the anus and extending proximally. The affected length of the bowel varies, typically not exceeding approximately 30 cm. This condition occurs when specific nerve cells in the gastrointestinal tract, known as ganglion cells, do not properly develop and mature. As a consequence, the affected portion of the bowel experiences a state of essentially being paralyzed.

Diagnosis

Hirschsprung’s disease is considered in infants who do not pass meconium within 48 hours of birth. Typically, 90% of babies pass their initial meconium within 24 hours, and 99% within 48 hours. A conclusive diagnosis involves a suction biopsy of the narrowed distal segment. Diagnostic methods include anorectal manometry, barium enema, and rectal biopsy. Radiological findings may also contribute to the diagnostic process (see Diagnosis, Test, Procedures for additional information on diagnostic techniques).

Treatment

Treatment for Hirschsprung’s disease involves a two-step process, with the first stage being a colostomy. During a colostomy, a section of the large intestine is cut, creating an opening in the abdomen through which bowel contents are discharged into a bag. Once the child’s weight, age, and condition are suitable, the second stage, known as a pull-through procedure, is performed.

Orvar Swenson, the individual credited with discovering the cause of Hirschsprung’s, pioneered the pull-through procedure in 1948. This surgery reconnects the functioning portion of the bowel to the anus and is the standard method for treating younger patients. While Swenson originated the procedure, subsequent modifications have led to variations such as the Swenson, Soave, Duhamel, and Boley procedures.

These procedures differ in their approaches:

  • The Swenson procedure retains a small portion of the diseased bowel.
  • The Soave procedure leaves the outer wall of the colon unchanged, with the Boley procedure being a minor modification, sometimes referred to as the “Soave-Boley” procedure.
  • The Duhamel procedure utilizes a surgical stapler to connect the healthy and affected bowel.

For the 15% of children who do not achieve full control, alternative treatments are available. Constipation may be addressed with laxatives or a high-fiber diet, while lack of control may necessitate a stoma. The ACE or Malone procedure involves a tube through the abdominal wall to the appendix or colon, allowing for daily bowel flushing, even manageable by children as young as 6.

If the affected lower intestine is confined to the lower rectum, additional surgical procedures like posterior rectal myectomy can be considered.

Additional Information on Hirschsprung’s Disease

Hirschsprung’s disease can manifest as part of various syndromes, including Waardenburg-Shah syndrome, Mowat-Wilson syndrome, Goldberg-Shpritzen megacolon syndrome, and congenital central hypoventilation syndrome.[9]

Dominantly inherited neurovisceral porphyrias such as acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria have been associated with Hirschsprung’s disease, hypoganglionosis, gut dysmotility, gut transit disorders, and intussusception. Children may need enzyme or DNA testing for these disorders as they may not produce or excrete porphyrins before puberty.

With an incidence of 1 in 5000 births, the most notable feature is the absence of ganglion cells. In males, 75% have none in the recto-sigmoid, and 8% have none in the entire colon. The enlarged section of the bowel is proximal, while the narrowed, aganglionic section is distal. The absence of ganglion cells leads to persistent over-stimulation of nerves in the affected region, causing contraction.

The common signs include:

  1. Delayed passage of meconium.
  2. Abdominal distension.
  3. Constipation.

According to a 1984 study, Hirschsprung’s disease occurs in 18.6 per 100,000 live births. It is more prevalent in males than females (4.32:1) and in non-white individuals compared to white individuals (1.67:1). Additionally, 9% of Hirschsprung cases were also diagnosed with 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/ng0893-346. PMID 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.2472070182. PMID 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.