Background Hirschsprung Disease (HD) is characterised by the absence of ganglion cells in the distal bowel commonly presents in neonatal period with a suggestive history. However a rectal biopsy (RB) is required to confirm the diagnosis. The reported incidence in the UK is 1:5000.
Aim To describe the clinical characteristics of neonates with HD presenting to a regional neonatal surgical centre.
Methods Retrospective review of clinical records over a 2 year period (2012–2013).
Results 15/51 infants evaluated had a positive rectal biopsy (RB) 4 infants were inborn (Inborn Incidence 1/3000), 11 were referred from 7 other London hospitals.
Initial presenting complaint in the HD (non HD) groups was: Abdominal distention 93% (95%) Delayed passage of meconium 78.5%,(69.5%) Bilious vomiting 57% (82%), Poor feeding 7% (35%).
Gestation age (mean,(range)) was 39 (37–41). Infants were referred on d3 (1–10) RB was performed on day 9 (2–37), 85% were initially managed with rectal washouts and discharged home. 2 infants required an operation in the neonatal period. The remainder underwent surgical procedure on day 159(61–521).
Conclusion HD needs to be considered and a RB performed in infants with consistent history and examination Especially abdominal distention or history of delayed passage of meconium. The incidence of HD may be higher in some populations and this should be evaluated further.
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