Hirschsprung's disease usually manifests itself in the immediate neonatal period by the failure of passage of meconium followed by obstructive constipation with abdominal distension and vomiting. 98% of normal infants pass meconium within the first 24 hours of life as opposed to just 6% of those with aganglionosis.
The symptoms are relieved by rectal examination which usually produces large quantities of gas and faeces.
In some instances, when only a small segment of the rectum is affected, the build up of pressure may permit the occasional passage of stools, even intermittent bouts of diarrhoea.
In unrecognised cases of Hirschsprung's disease - usually in older children - putrefaction with foul-smelling liquid faeces occurs and occasionally this is associated with a severe diarrhoea due to colitis.
If the condition is mild, then the symptoms may comprise a chronic and severe constipation, with gross abdominal distension that may continue unrecognised until childhood. Failure to thrive is common in this group. It is unlikely, however, that constipation will have developed later than one month of age, and careful history taking usually reveals this.
Last reviewed 01/2018