HEAPHY 1 & 2 CASE RACE 1 – DIAG Heather GUNN Sat 31 st Aug 2013 Session 3 / CR1-1 13:01 – 13:05 AUCKLAND ABSTRACT Auckland will present an interesting case of late diagnosis (diagnosis withheld)

Case Race Delayed diagnosis HG

Patient Age : 29 years (at first presentation) Gender : Male History : – Childhood abuse – Mental impairment – Bowel problems since childhood

17/04/12 Soiling ? Bowel obstruction Report: Marked faecal loading – no obstruction

16/06/2012 (two months later) Long history of bowel problems Report: Significant faecal loading along with gaseous distension. No free air

25/01/2013 (nine months later) Diahorrhea and vomiting over last 24 hrs Report: Severe faecal loading distal sigmoid and rectum Consider Hirschsprung disease

22/05/13 (one year and one month later) Vomiting pain and distension Report: Progressive distension of sigmoid filled with faecal matter Findings in keeping with Hirschsprung disease

Usually diagnosed when the newborn fails to pass meconium - usually within 48 hours of birth He was diagnosed at 30 years

Treatment Surgery – most commonly: – Colostomy – Aganglionic section removed (if possible) – Bowel pulled through and anastomosed to e.g. anus – Healing – Colostomy reversed

Our Patient CT yesterday (29 th August) showed a narrowing 2.5cm above anal margin Patient is refusing biopsy Patient not keen on surgery

End