HIRCHSPRUNG’S DISEASE

DEPARTMENT OF PAEDIATRIC SURGERY

Presenter: DR BenHarris (MD(

• A.k,a Congenital aganglionic megacolon

• Discovered by Harald Hirchsprang (1886(

• Is a condition that affects GIT and usually causes problems with passing stool.

• Present when a baby is born (congenital( and results from missing nerve cells in the muscles of part or all of the baby’s colon.

• most common cause of lower intestinal obstruction in neonates.

• Familial tendency

• Risk factors;

- +ve family hx,

- being male,

- having other inherited conditions (heart problems, Down sydrome(

Introduction

Incidence

• 1\5000 live birth newborn

• 70-80% is boys.

• (M / F. 4: 1 (

• Total colonic aganglionosis, 35% girls

• 3-5% have Down’s sydrome

• Less common in blacks.

• >95% cases are full term babies

• Prematurity is reported in as many as 10% of those children with HD

• Familial tendency (Dominant pattern of inheritance(

EMBRIYOLOGY

During normal fetal development cells from neural crest migrate into the large intestine to form the network of nerves called Auerbach’s plexus (Muscularis externa( and Meissner’s plexus ( submucosa(

-Occurs in the end of first trimester-Lack of these nerves causes failure of

relaxation of the involved part of the colon. -Also supplied by sympathetic nerves, and

intrinsic component (enteric nervous system(

HD, due to failure of neural crest cells to migrate caudallyAganglionosis begins at anorectal line

(internal anal sphincter(

80% extend only up to rectosigmoid junction(Short segment(

10% extend proximal to splenic flexure10% involves the entire colon and part of small bowel

Rarely involves entire gastrointestinal tract

Types

1. Congenital : Commonest

2. Acquired : Degeneration of the ganglions may occur due to:

-Vascular causes like after pullthrough procedure due to ischemia & tension.

- Non vascular causes like Trypanosoma (chaga's disease(. Vit B1 def. Chronic infection ( TB.(.

Causes

-No clear cause identified -Due to mutations in one of several genes

RET proto-oncogene locus10q11.2 (most common( EDNRB, locus 13q22 >endothelin receptor type B

EDN3, locus 20q13.2-q13.3 >endothelin 3

RET gene -Provides instructions for producing a protein that is involved in

signalling within cells,essential for the normal development of several kinds of nerve cells (cells of the neural crest(

-Ass with thyroid cancer and neuroblastomaEDNRB, EDN3 > coded proteins helps to connect the nerve cells to to the digestive tract

Other: Nueregulin 3(NRG3( > formation of enteric nervous sytem.

PATHOPHYSIOLOGY

• The gross pathologic feature of HD is a dilated proximal intestine with gradual or abrupt transition

to normal calibrated distal intestine . .

• The colon proximal to the aganglionic segment, in an effort to overcome the partial obstruction,

becomes distended and its wall markedly thickened because of muscle hypertrophy

• The degree of hypertrophy and dilatation depends upon the duration and degree of obstruction

and thus, indirectly to the age of the patient.

• TZ is typically funnel like or cone shaped

ASSOCIATED ANOMALIES

HD is usually a solitary anomaly in a full term, otherwise healthy infant

Associated anomalies do occur in nearly 20% of cases • urogenital system (11%)• cardiovascular system (6%) • gastrointestinal system (6%), • with 8% having various other malformations

Ass sydromes:

Waardenburg-Shah sydrome

Trisomy 21 occurs in approximately 5% of cases

Mowat-Wilson sydrome,

Goldberg-Shpritez megacolon sydrome, and

Congenital central hypoventilation sydrome.

MEN2 (Multiple endocrine neoplasia)

Waardeberg syndrome

An inherited auotosomal dominant disorder

-hearing loss

-Pigmented anomalies affecting the eyes, hair, skin and various defects of neural

crest derived tissues

Four variants:

Types 1-4

-Type 1: common cause of genetic deafness

-Type 4:( ass with Hirchsprung’s disease)

Signs n symptoms

In newborns -Failure to pass muconium-Abd distension-Vomiting (bilious)-Constipation or gas-Diarrhoea

In older children-Chronic constipation-abd distension-failure to gain weight (growth retardation)

COMPLICATIONS Neonatal Intestinal obstruction -bilious vomiting, -abdominal distension -failure to pass muconium Recurrent Enterocolitis mainly in the 1st three months of life. -fever, -lethargy, -anorexia, -vomiting, -abd distenon and -diarrhoea Tx: antibiotics, antpyretics, fluids Spontanous perforation occurs in 3%, specially if long segment aganglionosis.

Chronic constipation Growth retardation Volvulus.

DiagnosisHistory Failure to pass meconium, painless abdominal distension & constipation

Physical examinations Distended abdomen Multiple fecal masses on abdominal examination On DRE:

• Anal sphincter is hypertonic• Rectal ampulla is typically empty.• Hard fecal mass.• Gash of air apon withdrawal of finger

Investigations

Radiology 1. Plain x-rays of the abdomen :Erect & supine2. Contrast enema– contrast enema should be done without preparation

of bowel– Shows narrow distal segment,– funnel-shaped dilatation at level of transition zone

with marked dilatation of the proximal colon.24-hrs delayed films (child with psychogenic stool holding)

Electromanometry .– The classic finding is the absence of the recto anal inhibitory

reflex when the rectum is distended. (Lack of internal anal sphincter relaxation in response to rectal

stretch), balooning– not useful in neonate– excellent screening tool in infant & children

Rectal biopsy :– Definitive diagnostic test – demonstrates absence of ganglion cells, – nerve hypertrophy and – stains indicating increased acetylcholinesterase activity.

suction mucosal biopsy (at different levels ), can be done without anesthesiafull thickness biopsy is done under general anesthesia.

UltraSonography: for associated anomalies.

Management :

• Acute I.O. ,– NGT , – NPO– IVF ,– Antibiotics ,– Rectal tube irrigations .– The initial treatment requires performing a colostomy. ( multiple seromuscular biopsies)

Note: The colostomy is placed above the transition zone. – Placement in an area of aganglionosis will lead to persistent obstruction– Definitive treatment will be planned.

• Chronic constipation :– Laxative – Saline enema.– Work up to establish the diagnosis– Definitive treatment will be planned

Definitive procedures: By the age of 6-12 months; 9kg or more), a formal pull-through procedure is done

1. Open surgery :There are many surgical options for Pull-through operation. All aiming at resection of aganglionic segment They give excellent result in 90%.

a.swenson.b.soave. c.Rehbein.d.Duhamel.e. Boley's.

Swenson ProcedureSharp extrarectal dissection down to 2 cm above the anal canal

Aganglionic colonic segment resected

End-to-end anastamosis of normal proximal colon to anal canal

Completely removes defective aganglionic colon

Duhamel Procedure Posterior portion of defective colon segment resected

Side to side anastamosis to left over portion of rectum

Constipation a major problem d/t remaining aganglionic tissue

Simpler operation, less dissection

Soave ProcedureCircumferential cut through muscular coat of colon at peritoneal reflection

Mucosa separated from the muscular coat down to the anal canal

Proximal normal colon is pulled through retained muscular sleeve

Telescoping anastamosis of normal colon to anal canal

Advantage: rectal intramural dissection ensures no damage to pelvic neural structures

Higher rate enterocolitis, diarrhoea, often requires repeated dilations

2. LAPAROSCOPY . Transanal endorectal pullthrough

-Excised aganglionic tissues removed through anal canal

-no abdominal incision

-Better results in terms of pain, return of bowel function, shortens hospital stay

-Similar incidence of leaks, pelvic abscesses, enterocolitis.

One vs Two Stage procedure

Historically,Two stage procedure performed: preliminary colostomy, then completion pull through

-Delicate muscular sphincters of newborn may be injured

1980s, 1 stage procedures became more popular

Comparison by complications

Early complications: No difference in incidence of anastomotic leak, pelvic infection, prolonged ileus, wound infection, wound dehiscence

Late complications: No difference in incidence of anastomonic stricture, late obstruction, constipation, incontinence, urgency

Postoperative enterocolitis higher in 1 stage (42% vs 22%(

COMPLICATIONS

1. anastomotic leak.2. stricture .3. retraction of the colon.4. fecal incontinence (soiling/encopresis/paradoxical

diarrhoea (.5. persistant constipation.

NOTE: -Afebrile Dirrhoea soon after pullthrough is

expected -Fluid and observation, Avoid antemetics

Feature Functional Constipation Hirschsprung’s Disease

Onset 2-3 years At birth

Delayed passage of meconium Rare Common

Obstructive symptoms Rare Common

Withholding behavior Common Rare

Fear of defecation Common Rare

Fear of incontinence Common Rare

Stool size Very large Small, ribbon-like

Poor growth Rare Common

Enterocolitis Never Possible

Rectal ampulla Enlarged Narrowed

Stool in ampulla Common Rare

Barium enema Lg amount of stools,no transitional zone

Transitional zone, delayedemptying

Anorectal manometry Normal Absent rectosphincteric refl ex

Rectal biopsy Normal No ganglion cells, nerve hypertrophy and increase acetylcholinesterase activity

Distinguishing features between childhood functionalconstipation and Hirschsprung’s disease

THANKS