Hirschprung's disease

Key points

1:5000 births

M:F 4:1 short segment, more equal M:F ratio with increasing length of segment

With total colonic aganglionosis, the male to female ratio is reversed at 0.8:1

28% risk for male child of mother with long segment HD

Risk for siblings - 3% short segment, 17% long segment

15-20% total colonic is familial

10% is total colonic

80% rectosigmoid

90% of transition points are within colon

No relationship between length of segment and success of washouts

Discontinuous HD (e.g. skip lesions) has been described but is exceptionally rare

Normal length of aganglionosis - 2-17mm above dentate

Pathophysiology

Absence of ganglion cells in submucosal plexus AND intermuscular plexus

Genetics

Most common mutation - RET proto-oncogene 10q11.2 in 50% familial, 20% sporadic

Codes for tyrosine kinase -responsible for migration and differentiation of ganglion cells

Associations

Congenital central hypoventilation syndrome - PHOX2B polyalanine expansion

Has Hirschsprung in 20% of cases = Haddad syndrome

JPS 2018 Broch - 33 patients: 80% had long segment, 20% rectosigmoid

Trisomy 21

Incidence of T21 in HD is 7%

HD in T21 is 2%

High risk of enterocolitis - do not do pullthrough until older - leave with stoma

Waardenburg-Shah (type 4a) - SOX10 (22q13)

Atypical indications for suction rectal biopsy

1. Neonatal feed intolerance and failure to thrive

2. Recurrent Necrotising enterocolitis in term baby

Histology

Acetylcholinesterase staining - eases finding hypertrophied nerve fibres

S-100 and calretinin (Ca transporter on ganglion cells) - eases identification of ganglion cells

A transition zone biopsy may have both presence of ganglion cells AND hypertrophic nerve fibres

Physiological zone of aganglionosis - biopsy too low - will not have hypertrophic nerve fibres if no HD - also epithelium will be squamous

If no hypertrophic nerves AND no ganglion cells AND definitely not biopsy from physiological zone of aganglionosis - could be total colonic disease

No value in biopsy from appendix - there is a normal paucity of ganglion cells

Histology of disuse colitis after defunctioning - inflammation, crypt abnormalities/abscesses

Radiology

Contrast enema findings:

Look for calibre change whcih may represent transition zone

Normal recto:sigmoid 2:1 - need to see lateral view as well to comment - In HD it is reversed 1:2

Question mark shaped colon in TCHD - pathognomonic

Blood supply to colon + rectum

SMA: ileocolic, right, middle colic

IMA: left colic, superior rectal

Internal iliac: middle rectal, pudendal artery - inferior rectal

Venous drainage:

SMV: following same course as arteries

IMV drains to splenic vein

Complications

For incontinence secondary to sphincter injury or resection of anoderm, a rectal irrigation regime should be used

In redo/colonic derotation - SMA syndrome happens due to transverse colon being pulled down and vessels stretching

Dilated Duhamel pouch - resect and do Swenson redo

Outcome

Follow up should be increased around the time of toilet training, as a tendency to withhold stools can increase the risk of enterocolitis (HAEC) or severe constipation

30% of patient may develop HAEC

7-30% develop constipation

1-13% soiling - differentiate loose stool from constipation + overflow

10% male, 50% female sexual dysfunction

Standard scenario

Neonate with distal intestinal obstruction

Differentials:

1. Hirschprungs

2. Meconium ileus/plug syndrome

3. Atresia

4. Medical - Hypothyroidism, maternal opiates, premature gut, small left colon

Ensure resuscitated by NICU team

History

Antenatal features - echogenic bowel, cysts

Maternal opiates, diabetes, MGSO4

Family history of HD, CF

Examination

Abdomen - distension, masses, hernias

Anus - Differentiate from ARM

Spine

Investigations

AXR - look for differential diagnosis: Meconium ileus: No air fluid levels, Calcifications, Neuhauser sign

Can start with PR/tube or washout but may make contrast enema less accurate

LGI contrast - attend scan yourself

Pass soft rectal catheter - look for explosive release of stool

Look for the following on contrast enema:

HD - Transition point, Recto-sigmoid ratio 1:2 on lateral view, question mark sign for total colonic HD

Meconium plug - Meconium against the colonic wall, creating a double-contrast impression no microcolon, single large plug, green with pale head

Meconium ileus - Unused microcolon with multiple filling defects

Management

If HD suspected - rectal washouts BD/TDS until abdomen flat and established on feeds

Perform suction rectal biopsy (SRB) (can be done up to age 6 months)

Home with washouts and specialist nurse support if successful in hospital and parents capable and motivated

If washouts not successful or repeated enterocolitis, admit for washout, checking parents technique and antibiotics, if not already done, do contrast for length of segment. If washouts failing, or evidence of long segment - stoma

Decision making for stoma

Indications for stoma

1. Surgeon cannot decompress

2. Parents cannot decompress at home

3. Enterocolitis

In emergency - ileostomy

If in daytime - if possible levelling colostomy if possible in descending colon - with biopsies

Colostomy has advantage of only 1 more procedure - bring down to rectum. Ileostomy will have 2 more

Do donut biopsy - ERNICA 2020

(European Reference Network for rare Inherited and Congenital (digestive and gastrointestinal) Anomalies - launched in March 2017)

If rectosigmoid segment with stoma - Pullthrough at 3 months or when thriving

If long segment - see below

2017 BAPS CASS - Prospective cohort of 305 patients. Approx 1/3 patients require stoma pre op. Long segment, delayed diagnosis more likely to need stoma

At pullthrough

Make sure histopathologist available

Catheterise

Give good on table washout - as unable to after op

Laparoscope - look for transition

Biopsy past transition zone, up to point where left colon can be brought down

Short segment

Divide mesorectum

Then transanal dissection - protect dentate

Laparoscope before completing anastomosis to check not twisted/kinked

Post op: Follow ERNICA guidance

Feed within 24-48 hours

Nappy rash cream

Catheter out after epidural out/PCA down

Calibrate anastomosis at 2 weeks

No need for routine dilatations unless stricture present

If stricture - dilatations, follow up every 2 weeks - do EUA if parents unable, or persistent stricture

Advise immediate tube decompression if unwell, warn about HAEC

Structured follow up -

Frequent in first year and around weaning, potty training

Assess urinary continence, sexual function and psychosocial expectations

School input

Dietician for loose stools, feeding pattern, loperamide, optifibre

Long segment

If aganglionic past left colon - midline laparotomy and levelling biopsies + stoma

JPS APSA 2021 systematic review for long segment HD

Duhamel most frequently used but Swenson/Soave similar outcomes

Any pullthrough age 2 when has got urinary continence, on solid diet and output more formed - therefore pelvic floor is adequate (some surgeons do earlier)

Talk to parents

Small intestinal is aganglionosis past >5cm of Terminal Ileum - do Hickman line, gastrostomy for continuous/concentrated feeds and stoma at level of ganglionosis

Total intestinal - definition - APSA <20cm after DJ - do Hickman line, gastrostomy and stoma 2/3 down small bowel for access and decompression of secretions

Gastroenterology referral, intestinal failure team later

Cannot feed

Special scenario - Post rectal suction biopsy bleed

Severe post suction rectal biopsy bleeding:

Wet gauze and pressure should be applied, for 10 minutes and the baby resuscitated.

If bleeding continues, pressure must be reapplied and bloods, FBC, UE, Clotting and G+S should be taken. Adrenaline soaked gauze can also be used. If a GA is needed, then sutures can be applied, if that fails, the feeding vessel must be ligated

Special scenario - Late presentation or needing redo

Gastro MDT and dietcian with senior surgeon for malnutrition - decision on feeding method post op

Midline laparotomy and levelling stoma +/- line if need for PN +/- gastrostomy

Pullthrough when thriving

Special scenario - Obstruction/enterocolitis after pullthrough

Divide into mechanical (stricture/twisted/kinked anastomosis/rolled up Soave cuff/spur) and functional (transition pullthrough/witholding - in age >2)

Find out what kind of pullthrough - talk to surgeon if it was not you, read op note

Do PR in clinic first, review the histology - for circumferential ganglion cells

Do contrast enema

Then EUA + strip biopsy (anterior for swenson/soave (If redo needed- will be Duhamel - do not want to disrupt posterior wall with biopsy), posterior for Duhamel) labelled proximal and distal

If investigations normal - give botox for internal sphincter achalasia, give stimulant laxatives for colonic hypomotility

References

Chen, Mike, et al. "Hirschsprung Disease." Pediatric Surgery NaT, American Pediatric Surgical Association, 2021. Pediatric Surgery Library, www.pedsurglibrary.com/apsa/view/Pediatric-Surgery-NaT/829048/all/Hirschsprung_Disease.

Shailinder Singh - Nottingham Children's hospital teaching series

Broch A, Trang H, Montalva L, Berrebi D, Dauger S, Bonnard A. Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases. J Pediatr Surg. 2019 Nov;54(11):2325-2330. doi: 10.1016/j.jpedsurg.2019.02.014. Epub 2019 Mar 1. PMID: 30879749.

Kyrklund K et al. ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. Orphanet J Rare Dis. 2020 Jun 25;15(1):164. doi: 10.1186/s13023-020-01362-3. PMID: 32586397; PMCID: PMC7318734.

Bradnock TJ, Knight M, Kenny S, Nair M, Walker GM; British Association of Paediatric Surgeons Congenital Anomalies Surveillance System (BAPS-CASS). The use of stomas in the early management of Hirschsprung disease: Findings of a national, prospective cohort study. J Pediatr Surg. 2017 Sep;52(9):1451-1457. doi: 10.1016/j.jpedsurg.2017.05.008. Epub 2017 May 11. PMID: 28528714.

Kawaguchi AL et al. American Pediatric Surgical Association Outcomes and Evidence-Based Practice (OEBP) Committee. Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee. J Pediatr Surg. 2021 Sep;56(9):1513-1523. doi: 10.1016/j.jpedsurg.2021.03.046. Epub 2021 Mar 28. PMID: 33993978; PMCID: PMC8552809.