INTESTINAL MOTILITY DISORDERS – NID and Hirschprung’s disease

HIRSCHPRUNG DISEASE

Pathology
sympathetic fibres have 2nd ganglion at the organ
 these ganglions are in the Meissner and Auerbach plexus
 in Hirschprung these ganglion cells are absent - therefore the bowel is immotile
 cells are absent because of arrest of neural crest migration from proximal to distal bowel
 therefore Hirschprung always involves the anus
 variable proximal involvement: rectosigmoid (75%), entire colon (10%)

2 types of Hirschprung’s:
 short segment
o starts at anus and extends to rectum, sigmoid
o ♂ 5:1
 long segment
o familial, ♂=♀

Epidemiology
1:5000
uncommon in preterm infants
associated with T21, Smith-Lemli-Opitz, Waardenburg, urogenital and CVS abnormalities

Clinically
History
delay in passage of meconium the key
 >99% of kids should pass stool before 48 hours
abdo distension and bile stained vomitus later
enterocolitis
 abdominal distension can lead to enterocolitis because of deterioration of the blood-
bowel barrier with prolonged intestinal distension
 profuse diarrhoea
 unwell
 AXR shows toxic megacolon
chronic constipation
FTT+/- protein-losing enteropathy
nb. encopresis is UNCOMMON in HD (cf function constipation)

Examination
abdo distension
rectum empty on exam but faeces may be palpable on left+/- explosive passage of faeces/gas

Investigations

AXR
 multiple fluid levels

barium enema (without preparation to prevent dilation of abnormal bowel)

 transitional zone b/w normal dilated proximal bowel and distal, contracted abnormal bowel
 microcolon
 retention of barium >24hrs after initial films

suction rectal biopsy

 take greater than 2 cm from the dentate line
 histology shows absent ganglion cells and hypertrophy of nerve bundles
 positive stain for acetylcholinesterase

manometry (not really done): failure of anal sphincter relaxation with increased rectal pressure

Management

2-stage procedure
colostomy after segmental biopsy
‘Soave’ procedure at 3 – 6 months
o remove the affected bowel
o pull through to the anus and close colostomy

complicated by
 recurrent enterocolitis
 stricture
 prolapse
 perianal abscess
 soiling

NEURONAL INTESTINAL DYSPLASIA

Clinical
usually long-standing intractable constipation
clinical features that differentiate from "functional constipation"
 faeces are soft
 often delayed passage of meconium
 no faecaloma on palpation

Investigations
nuclear transit study - pattern of slow colonic transit
laparoscopic biopsies
 look at substance P/VIP neurones by immunofluorescence
 ↓ substance P - c/w "NID"

Treatment
 Malone appendicostomy with Chait button
 intermittent antegrade colonic enemas
 ???low/no fibre diet