Hirschsprung disease — structured clinical encounter

Station 1 — recognition

The baby is 54 hours old and has not passed meconium. His abdomen is soft but distended, and he has features of Down syndrome. The combination of delayed meconium beyond 48 hours, abdominal distension and trisomy 21 puts this child at very high risk of Hirschsprung disease. Approximately 90 per cent of term neonates with Hirschsprung disease have delayed meconium beyond 48 hours, and roughly 10 per cent of all Hirschsprung patients have trisomy 21. The pre-test probability is therefore substantially elevated. I would assess and stabilise the child and arrange a suction rectal biopsy as the gold-standard diagnostic test. ^{[1] [12]}