Hirschsprung's Disease - Congenital Mega Colon

Transition Zone Normal Bowel

Hirschsprung Disease

Hirschsprung Disease
The

primary defect is the absence of the intramural ganglion cells of the submucosal and myenteric plexuses

Hirschsprung Disease
This

absence of normal parasympathatic innervation prevents gut peristalsis, leading to functional constipation. proximal colon hypertrophied by trying to overcome functional obstruction. zone exists between normal and abnormal aganglionic intestine.

The

Transitional

Hirschprungs Disease
More

than 50 years old since the discovery of the cause and the treatment for Hirschprung disease. Incidence : 1 in 5000 live birth 80 % of patients are males

Hirschsprung Disease
Aganglionosis

is restricted to the rectum and sigmoid colon in 75% of patients . extends more proximally in 15-20% . and affects the entire colon and a variable length of ileum in 8%. Rarely, ganglion cells are absent from most of the gastrointestinal tract.

Classification of HD based on segment involved

Ultra

short Segment Short Segment Recto Sigmoid (Classical) Long Segment Total Colonic Aganglionosis Total Intestinal Aganglionosis
Zuelzer

Wilson Syndrome

Visible transitional zone

Gross photograph (of another patient) of a distal colonic segment resected for Hirschsprung disease. Note the dilated, proximal portion separated from the constricted distal portion by a transition zone.

Hirschsprung Disease
Association

with inheritance in chromosome 10 in some patients. RET- protooncogene Autosomal dominant in totally agangloinic bowel. Common in Down syndrome

Histology Of Hirschsprung's Disease

Mucosa
v

Sub Mucosa Thickened Nerve

(Note Absence of Ganglion)

Myentric Plexus

Clinical diagnosis
Only

15% are diagnosed in the first month of life, but two thirds are in the first 3 months. Cases beyond 5 years of age usually have ultra- short segment disease.

 Delayed

passage of Meconium Constipation Abdominal distension Rectal examination or wash outs cause passage of Meconium and relief of symptoms Occasionally Diarrhoea

History

Clinical diagnosis
.

Symptoms within the first week of life include failure to pass meconium within 48 hours, reluctance to feed, bilious vomiting, abdominal distention, often have a worried or frowning appearance. They may be confused with obstruction from meconium ileus, ileal atresia.

Clinical diagnosis
.

Explosive liquid stools, fever, and severe prostration are indicative of enterocolitis.

Enterocolitis is rare (10%) in the first month but rises to 33% in the second and third months. Recall that diarrhea may be a late sign.

Neo

nates

Presentation
obstruction and constipation

Intestinal

Infancy
Distension

Child

Hood

Comfortable

in spite of massive distension Faecaloma and constipation

1. Not fully continent - Fill and spill - Soiling present 2. Fissures - Present

1. Super Continent - No Soiling 2. Fissures absent 3. PR: Rectum empty, Wall collapsed, and griping of finger present ( Faecal matter may be evacuated on removing the finger ). If the HD is short tip of finger may enter capricious rectum with faecaloma

3. PR: Rectum dilated from anal verge, Wall dilated, and facaloma present from anal verge. Peri anal excoriations seen.

INVESTIGATIONS
Plain

X rays Barium Enema Ano rectal Manometry Rectal Biopsy

Full

thickness Suctio

Barium Contrast

Diagnostic and accurate in 97 patients (86.3%).

Anorectal Manometry
Ano Rectal Pressure profile (ARPP) in HD

Elevated tone with increased ARPPP or normal values Absence of internal sphincter relaxation is pathognomic of HD Demonstrated by distending the rectum with saline Multi segmental, in coordinated, irregular mass contractions The absence of irregular contractions on withdrawal Break off point - helps in mapping the extent of HD

Investigations - Histological
Methods
Haematoxylin

Eosin Enzyme histo chemical staining

Rapid Acetyl cholinesterase reaction (AchE) Lactic Dehydrogenase reaction (LDH) Succinic Dehydrogenase reaction (SDH) Alpha Naphthyl Esterase (ANE)

Investigations - Histological
Findings Absence of ganglion cells in the sub mucosa and Myentric plexus Increase in Acetyl Choline Esterase activity (AchE) in the Para sympathetic Nerve fibres of lamina propria, Mucosa, Muscularis Mucosa and circular muscle

positively (darkly) staining fibers within the lamina propria and muscularis propria which, in the absence of ganglion cells, is diagnostic of Hirschsprung disease.

Complicatons

Enterocolitis,

Enterocolitis
Faecal

stasis and mechanical dilatation Infectious aetiology Loss of mucosal defense mechanism Increased prostaglandin activity Alteration in Mucin content Alterations in Neuro Endocrine Cell population

SURGERY principle
Excision

of aganglionic

segment. Restoration of bowel

Technique

Swenson
Duhamel Soave

staging

stage 2 stage 1 stage

Approach
Abdomoinoperineal Laparoscopico-perineal Purely

transanal

How many stages? Approach? Technique?

one

Transanal soave

Most recent !

One

stage Transanal Soave .

Surgery
Swenson Duhamel

- proctolectomy

--posterior pull-through with side to side anastomosis to angangolionic rectum

Soave

-- pull ganglionated bowel through sleeve of rectum

First Stage in conventional treatment of HD

Colostomy

Second Stage in conventional treatment of HD

Swensons Recto Sigmoidectomy

Duhamels Retro Rectal Pull Through

Soaves Endo Rectal Pull Through

Excision of afflicted segment in Toto or partially by Laprotomy

Third Stage in conventional treatment of HD

Colostomy Closure

TAPT
One

stage TRANSANAL Pull Through

Plane of dissection in POOP

Mucosa

Dilated normal bowel

Sero Muscular Layer

Peritoneum
Narrowed Affected Bowel

Levator Ani

The retractor

Placement of the traction stitches

Clear Transitional Zone

Segment Resected

23 cm to 53 cm (38cm)