Przemysław Gałązka, MD, PhD

Clinical Ward of General and Oncological Surgery

for Children and Adolescents

CM UMK Bydgoszcz, Poland

Head of the Department: Irena Daniluk-Matraś, MD, PhD

Hirschsprung`s disease

One of the most common causes of

intestinal obstruction in newborns.

Absence of ganglion cells in the distal

bowel and extending proximally for

varying distances.

First description - 1691 r Frederick

Ruysch, 1886 r. Harold Hirschsprung

Male-to-female ratio 4:1, in long segment 1,5-

2:1

Incidence - 1 in 5000 live births

Distance of aganglionosis:

- 75% rectosigmoid

- 17% sigmoid, splenic flexure or transverse

colon

- 8% total colon along with a short segment of

terminal ileum

Cases of total intestinal aganglionosis or skip

lesions

Neural crest-derived neuroblasts first

appear in the developing esophagus at

5 weeks, and then migrate down to the

anal canal in a cranio-caudal direction

during 5th to 12th weeks of gestation

The ealier the arrest of migration, the

longer the aganglionic segment

Other theories: changes in

microenvironment (matrix proteins),

disturbing of migration or maturation of

the ganglion cells

3,6-7,8% reported incidence

of familial cases

15-21% incidence in TCA

Dominant gens with

incomplete penetration in

TCA. Recessive gens with low

penetration for recto-sigmoid

disease

4,5-16% of all cases of HD – Down

syndrome

Other genes: RET (mutation in 50% of

familial cases, 20% of sporadic cases)

Hereditary syndromes with association

of HS: Waardenburg syndrome, Smith-

Lemli-Opitz, von Recklinghausen`s

syndrome

HD

Impaired

process of

neuroblasts

migration

IND

Impaired

process of

neuroblasts

maturation

IND type A (5%) - congenital aplasia or

hypoplasia of the sympathetic innervation

(neonatal period: obstruction, diarrhoea,

bloody stools)

IND type B – hyperganglionosis of the

submucous and myenteric plexuses , giant

ganglia (usually

Hypoganglionosis

Internal Sphincter Achalasia

Smooth Muscle Cell Disorders (MMIHS-

megacystis microcolon intestinal hypoperistalsis

syndrome)

Neonatal bowel obstruction:

- colonic atresia, - meconium ileus, -

meconium plug syndrome, - small left

colon syndrome, - malrotation, - low

anorectal malformation, - intestinal

motility disorder / pseudo-obstruction, -

necrotizing enterocolitis, medical

causes: sepsis, electrolyte abnormalities,

drugs, hypothyroidism

Aganglionic bowel:

* Absence of ganglion cells in submucosal and myenteric plexus.

* Marked increase in acetylcholinesterase positive fibers in lamina propria and hypertrophic nerve trunks in the submucosa

Hypoganglionic bowel:

* Sparse and small myenteric ganglia with no- or low ACHE activity in lamian propria or muscularis mucosae.

80-90% are diagnosed during the

neonatal period

Over 90% of affected patients fail to

pass the meconium in the first 24 hours

of life

1/3 of babies with HD present with

diarrhoea

constipation

abdominal distension

vomiting

diarrhoea

Enterocolitis (life threatening condition!)

Clinical features

Radiological diagnosis

Anorectal manometry

Rectal biopsy

Dilated bowel loops with fluid levels

Airless pelvis

In patients with enterocolitis:

thickening of the bowel wall with

mucosal irregularity or grossly dilated

colon loop

Pneumoperitoneum (spontaneous

perforation)

Infant should not have rectal washouts or

digital examinations prior to barium

enema

Baby in the lateral position

Demonstration of transitional zone- flow of

barium from undilated rectum through a

cone-shaped zone into dilated proximal

colon

Retained barium and transitional zone at

24 hours delayed film

…of Total Colonic Aganglionosis

Suction- or full-thickness rectal biopsy

H&E staining

Histochemic examination for ACHE

Immunohistochemistry (NSE, S-

100,CD56)

Conservative

Surgical One-stage

Two- or Three-stage

Colostomy

Place of stoma formation

Surgical technique of definitive treatment

Swenson

Duhamel

Soave

Swenson Duhamel

Soave Rehbein

Anastomosis is performed after

intraoperative histopathologic

examination – confirmation of

colon level with normal

ganglion cells in ganglia.

Enterocolitis – commonest cause of

death !

Resolving with adequate therapy or !!!

!!! Toxic megacolon- sudden onset of

marked abdominal distension, bile

stained vomiting, fever, signs of

dehydratation, sepsis and shock

- Anastomotic leak

- Retraction of the pullthrough

- Perianal excoriation

- Enterocolitis

- Constipation

- Soiling

Inflammatory Bowel Disease

(IBD)

Ulcerative Colitis

• UC is an IBD of unknown etiology

• Confined to rectum and colon

• males and females equally affected

• highest incidence >10/100 000 in Nordic

countries, British Isles and North America

• 5% of cases have onset before the age of

of 10 years, and 20% before the age of 20

years

• the incidence has remained unchanged

after 1980`s

UC

• Etiology – multifactorial: environmental, infections,

psychosiocial, immunological and genetic factors (…some

inherited defects in the immunoregulation may lead to

clinical manifestation of the disease in certain

environmental conditions including infective agents).

• Pathology – chronic inflammatory disease of the rectum

and colon affecting mucosa and submucosa of the bowel

wall. Rectum affected in more than 95% and the

inflammation extends contiguously to the more proximal

large bowel.

• Specificity in pediatric cases: pancolitis more often than in

adult patients, backwash ileitis (suggests Crohn`s disease)

UC

• Characteristic histological appearance:

diffuse superficial unspecific inflammation,

neutrophilic epithelial invasion, crypt

abscesses, crypt deformity, mucosal

ulceration, epithelial regeneration with

pseudopolyp formation, atrophic and

dysplastic mucosa

• Risk of colon cancer in pediatric patients: 1-

3% - 10 years after onset of the disease,

• risk is increased by 1-1,5% after every year

UC

• Clinical Fatures: bloody mucous diarrhoea, abdominal pain, tenesmus,

fever, weight loss, poor apetite, growth retardation, malnutrition,

delayed sexual maturation, iron deficiency anemia secondary to

chronic intestinal bleeding, increased blood sedimentation rate and

fecal calprotectin concentration.

• Extraintestinal manifestations: joints (arthralgias, arthritis), skin

(erythrema nodosum, pyoderma gangrenosum), skeleton (decreased

bone density), eyes (uveitis) and hepatobiliary system (primary

sclerosing cholangitis, autoimmune hepatitis)

• Endoscopic diagnosis – findings and histological examination of the

biopsy specimen

• Differential diagnosis: Crohn`s disease, up to 5-15% of children with

UC diagnosis is changed to Crohn`s disease.

• 10-15% of children with IBD – initially: indeterminate colitis.

UC

• Medical management: intensive nutritional support,

corticosteroids – control of initial disease,

sulfasalazine and 5-aminosalicylic acid – maintaining

of remission, in selected cases: immunomodulatory

drugs (azathioprine, methotrexate, cyclosporine,

tacrolimus, infliximab)

• Surgical management (not the first-line treatment):

40-70% of children with UC

• Indications for operative treatment: chronic

persisting symptoms despite optimal medical therapy

and corticosteroid dependency, risk for colonic

dysplasia and carcinoma.

UC

• Emergency operation: toxicmegacolon, fulminant colitis

and persistent colonic bleeding.

• Procedure: restorative proctocolectomy with ileoanal

anastomosis (mucosectomy 5mm above dentate line, J-

pouch, with/without ileostomy)

• Postoperative function: 10-12 stools per 24 h, within 6

months: 2-7 per 24 h.

• Protective pads for nigh-time soiling.

• 20-50%- pouchitis (metronidazole and cyprofloxacin),

5-15%- wound infection (anastomotic leakage, fistula

formation), 15-45%- repeat operation

Crohn`s disease

• CD – chronic inflammation of the bowel with

unknown etiology

• In children is reported to be more common then

UC

• Males ad females equally affected

• 20-25% of patients with CD have the onset of

the disease before 15 yrs of age

• occurs more often in white population

• there are some hereditary risk factors for CD

• Etiology: genetic, immunological,

microbiological and environmental factors

Crohn`s disease

• Pathology: CD involves terminal ileum and colon in 60%

of cases, small bowel only in 30% and colon only in

10% of cases.

• Involved bowel and mesentery are thickened, fat

migrates into antimesenteric border, stricturising in the

segmet of bowel.

• Histologically: mucosa extensively ulcerated and the

inflammation is transmural. Inflammation often

interspersed with almost normally appearing mucosal

areas.

• Transmural inflammatory changes may develop to

fistulas: to bowel, bladder, vagina, perineum and

abdominal wall.

Simple classification of CD`s

location and behaviour = Vienna

classification:

Age at diagnosis A1, <40 years

A2, >40 years

Location L1, Terminal ileum

L2, Colon

L3, Ileocolon

L4, Upper gastrointestinal

Behaviour B1, Non-stricturing, non-

penetrating

B2, Stricturing

B3, Penetrating

Crohn`s disease

onset most often after the age of 10 years

typical early symptom: non-specific abdominal

pain

other symptoms: diarrhea, weight loss and fever,

growth failure, delayed onset of puberty

perianal disease (first presentation in 20% of CD): chronic anal fissures and skin tags and chronic

fitula in ano,

extraintestinal manifestations (may present years before the onset of CD): arthritis, erythrema

nodosum, pyoderma gangrenosum, iritis and

uveitis

Crohn`s disease

– medical management

more complex and more aggressive than in

UC

corticosteroids, aminosalicylates, antibiotics:

metronidazole and ciprofloxacin for colonic

disease

Elemental or semi-elemental enteral nutrition

Immunosupression: azathioprine, 6-

merkaptopurine, cyclosporine

TNF-alpha antibodies for fistulizing or refractory

CD

Crohn`s disease

– surgical management

There is no definitive curative treatment

for Crohn`s disease !

Indications for surgery-

Acute: toxic megacolon, acute bleeding,

GI perforation

Subacute or chronic conditions: refractory

strictures, internal or external fistula and

intra-abdominal abscesses

Crohn`s disease

– surgical management

MAIN PRINCIPLE: TO SAVE BOWEL

LENGHT !

Surgical procedures:

strictureplasty, colectomy and

ileorectal anastomosis, perianal

fistula resection, temporary or

permament stoma.

Anorectal Anomalies

• The term „anorectal anomalies” encompasses a series

of congenital defects that represent a wide spectrum.

• In the past: „high” and „low”, subsequently „high”,

„intermediate” and „low”.

• Actually: practical classification with therapeutic and

prognostic implication.

Anorectal Anomalies

• MALES:

1. Rectobladder neck fistula

2. Rectourethral prostatic fistula

3. Rectourethral bulbar fistula

4. Imperforate anus with no fistula

5. Perineal fistula

6. Complex defects

• FEMALES

1. Cloaca with a common channel longer than 3 cm

2. Cloaca with a common channel shorter than 3 cm

3. Rectovestibular fistula

4. Imperforate anus with no fistula

5. Perineal fistula

6. Complex malformations

ARM - Classification

Males

1 2

Females

1 2 3

Questions:

• Does the baby have a serious

associated defect ?

• Does the baby need a colostomy or

should we perform a primary repair of

the malformation?

Anorectal Anomalies –

- Neonatal Approach

Frequency of associated defects

in cases of anorectal anomalies :

urologic defects (50%)

spinal and sacral defects (30%)

tethered cord and other cord

abnormalites (25%)

cardiovascular malformations (30%, but

only 10% have important hemodynamic

repercussions)

esophageal atresia (5-10%)

• Descending colostomy with separated stomas

• distal stoma = mucous fistula

• High pressure distal colostogram before

definitive repair

Anorectal Anomalies - colostomy

Voluntary bowel movements in:

• 15% with rectobladder neck fistula

• 60% with recto-prostatic fistula

• 70% with cloaca (depending on the quality of the sacrum)

• 85% with recto-bulbar fistula

• 95% with vestibular fistula

• 100% for perineal fistula

• Occasional soiling

• Constipation

• Incapacity to empty bladder after cloaca repair (80%/20%)

• in case of fecal incontinence – bowel management

program is implemented

Anorectal Anomalies - Results

The end…