Easily Missed?

Hirschsprung’s disease

BMJ 2012; 345 doi: http://dx.doi.org/10.1136/bmj.e5521 (Published 1 October 2012)
Cite this as: BMJ 2012;345:e5521

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  1. A Arshad, paediatric specialist registrar1,
  2. C Powell, general practitioner2,
  3. M P Tighe, paediatric consultant1
  1. 1Paediatric Department, Poole Hospital NHS Trust, Poole BH15 2JB, UK
  2. 2Upton Surgery, Poole BH16 5PW
  1. Correspondence to: Dr M P Tighe, Poole Hospital NHS Foundation Trust, Child Health, Poole Hospital, Longfleet Rd, Poole BH21 2HJ, UK mpt195{at}hotmail.com
  • Accepted 3 July 2012

A 3 year old boy is brought to his general practitioner again by his worried mother. She is concerned that he remains constipated despite trying a third different laxative. Further history showed that he passed his first meconium only on day 5, and since then has been opening his bowels only weekly, with associated straining. His growth has fallen from the 25th to the 2nd centile for height and weight. On examination he has a distended abdomen with palpable stool throughout the abdomen.

What is Hirschsprung’s disease?

Hirschsprung’s disease is characterised by an absence of ganglion cells in the distal bowel, beginning at the internal sphincter and extending proximally. The resulting aganglionic segment of the colon fails to relax, causing a functional obstruction. Presentation is commonly in the first 28 days of life (neonatal period), with delayed passage of meconium and abdominal distension (see “Red flags” box). However, about 12% of patients present again in childhood with intractable constipation (not responsive to laxatives) and failure to thrive, with about a third of these presenting with enterocolitis.1 2

“Red flags” for Hirschsprung’s disease*

  • Delayed (>24 h) meconium—Present in 70-87% of cases of Hirschsprung’s disease and in <1% of normal children2 3

  • Neonatal constipation—Present in 90-95% of cases but in <7% of children with functional constipation2 3

  • Family history (affected sibling)—Present in 12-33% of cases4 5

  • Poor growth—Present in 25-30% of cases2 3

  • Abdominal distension—Present in 76-85% of cases but in 20% of patients with functional constipation2 3

  • Down’s syndrome and other chromosomal anomalies—Hirschsprung’s disease is present in 1.5% of patients with Down’s syndrome, but 5-10% of patients with Down’s have functional constipation7

  • *Three or more red flags are present in 18% of patients with the disease. No red flags are present in <1% of patients with the …

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