heaphy 1 & 2 case race 1 – diag heather gunn sat 31 st aug 2013 session 3 / cr1-1 13:01 –...

HEAPHY 1 & 2CASE RACE 1 – DIAG

Heather GUNN

Sat 31st Aug 2013Session 3 / CR1-1

13:01 – 13:05

AUCKLAND

ABSTRACTAuckland 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

http://www.beltina.org/pics/hirschsprungs_disease.jpg

Usually diagnosed when the newborn fails to pass meconium - usually within 48 hours of birthHe 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 (29th August) showed a

narrowing 2.5cm above anal margin• Patient is refusing biopsy• Patient not keen on surgery

End