Hirschsprung's disease (Paediatrics)

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It is a disease of the large intestine that occurs due to poor muscle movement in the intestine.

It is a genetic disorder characterised by the absence of nerves that facilitate motility in a part of the intestine. Areas lacking such nerves are unable to push the food matter, causing a blockage. The intestinal contents accumulate behind the blockade.The bowel and abdomen swell up as a result.

Symptoms in newborns and infants include difficulty with bowel movements, difficulty in removing meconium, difficulty in eliminating first deposition within 24-48 hours after birth, explosive and infrequent stool, jaundice, poor food intake, poor weight gain, vomiting, watery diarrhoea (in the newborn). In older children it can manifest with constipation that gradually worsens, faecal retention, malnutrition, slow growth and a swollen belly.

The diagnosis is reached through the patient's clinical history, a physical examination and additional tests such as an abdominal X-ray, an anal manometry, a barium enema and a biopsy of the rectum.

The treatment is based on surgery and involves the resection of the affected colon segment.

Bibliographic references
  1. David E Wesson, MD. Congenital aganglionic megacolon (Hirschsprung disease). Uptodate. Aug 04, 2017.
  2. Parisi MA. Hirschsprung Disease Overview. 2002 Jul 12 [Updated 2011 Nov 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1439/ (Accessed on March 24, 2015).
  3. Best KE, Addor MC, Arriola L, et al. Hirschsprung's disease prevalence in Europe: a register based study. Birth Defects Res A Clin Mol Teratol 2014; 100:695.
  4. McKeown SJ, Stamp L, Hao MM, Young HM. Hirschsprung disease: a developmental disorder of the enteric nervous system. Wiley Interdiscip Rev Dev Biol 2013; 2:113.
  5. E. Ros Rahola. Trastornos de la motilidad intestinal. Farreras Rozman. Medicina Interna. Volumen 1. 12º edición. 134:135.
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Symptoms

    Constipation since birth


    Vomit after eating


    Poor weight gain


    Eating very little and/or refusing to eat


    Feeling of abdominal heaviness or discomfort

Symptoms to watch out for

Fever (temperature higher than 38 ºC)
Blood in stools
Diarrhoea for more than 1 week
Vomiting

Self-care

Maintain a balanced diet: increase fruit, vegetable, and white meat consumption and reduce the intake of fatty meals and fritters.
Maintain hydration of 2 litres per day.
Engage in regular physical activity, adapted to age and physical condition, at least 3 times a week.