NEONATAL HIRSCHSPRUNG'S DISEASE

Definition
A congenital condition characterized by the absence of ganglion cells in the submucosal (Meissners) and myenteric (Auerbachs) plexus of the distal bowel which results in decreased motility in the affected segment.

Also known as congenital megacolon congenital colonic aganglionosis

History
1691 : First description of megacolon in childrenby Ruysch, a Dutch anatomist
1886 : Pathologic features described by Harold Hirschsprung at Berlin Society of Pediatrics Constipation in Newborns Due to Dilatation and Hypertrophy of the Colon 1901 : Tittel identified absence of ganglion cells in the distal colon of a child with Hirschsprungs disease First insight into pathogenesis 1948 : Orvar Swenson & Alexander Bill describe pathophysiology aganglionic segment fails to relax during peristalsis

Epidemiology
Incidence approximately 1 in 5000 live births Male to female ratio 4:1 Disease restricted to the rectosigmoid junction in 75% 20% have associated abnormalities:
Down syndrome (8%) cardiac defects (8%) genitourinary abnormalities (6%) gastrointestinal abnormalities (4%)

 The average age at the time of diagnosis has been decreasing over the years. 15% within the first month of life 40-50% in the first 3 months 60% at the end of the first year of age 85% by 4 years.
mean age of 10 mos

Proposed Etiology
Embryology
1. Precursor neuroblasts do not migrate to the affected segment 2. Neuroblasts are present but do not mature 3. Cells develop, but then degrade secondary to microenvironmental effects

Genetics
1. Causative gene linked to chromosome10 2. Associated with RET proto-oncogene (codes for a tyrosine kinase receptor molecule)

Pathophysiology
3 neuronal plexus innervate the intestine: the submucosal (ie, Meissner) plexus, the intermuscular (ie, Auerbach) plexus, and the smaller mucosal plexus.
finely integrated and involved in all aspects of bowel function, including absorption, secretion, motility, and blood flow.

 Normal motility is primarily under the control of intrinsic neurons.

Bowel function is adequate, despite a loss of extrinsic innervation.

These ganglia control both contraction and relaxation of smooth muscle, with relaxation predominating. Extrinsic control is mainly through the cholinergic and adrenergic fibers.
cholinergic fibers cause contraction adrenergic fibers mainly cause inhibition.

In patients with Hirschsprung disease, ganglion cells are absent

Marked increase in extrinsic intestinal innervation (2-3 times that of normal innervation)
The adrenergic (excitatory) system is thought to predominate over the cholinergic (inhibitory) system Increase in smooth muscle tone.

With the loss of the intrinsic enteric inhibitory nerves, the increased tone is unopposed
Imbalance of smooth muscle contractility, uncoordinated peristalsis, and a functional obstruction.

Classification
Length of bowel involved Rectosigmoid Long segment (above sigmoid) Total colonic Total intestinal Ultrashort segment Proportion 70-80% 10- 25% 3- 15% 0.4- 4% <1%

Clinical features

Late features
Gross abdominal distension Chronic constipation Failure to thrive Contracted rectal wall felt by examining finger. Enterocolitis
Most feared complication of Hirschsprungs disease Presented with Fever Explosive diarrhoea Prostration extreme exhaustion or lack of energy May lead to acute inflammatory and ischemic changes in the colon, with perforation and sepsis

Differential diagnosis
Mechanical obstruction
Meconium ileus Meconium plug syndrome Neonatal small left colon syndrome Malrotation with volvulus Incarcerated hernia Jejunoileal atresia Colonic atresia Intestinal duplication Intussusception NEC

Functional obstruction
Sepsis Intracranial hemorrhage Hypothyroidism Maternal drug ingestion or addiction Adrenal hemorrhage Hypermagnesemia Hypokalemia

Management
Investigations
Abdominal plain films
Barium enema Anorectal manometry Rectal biopsy

Abdominal plain X-Ray

Distended bowel loops Fluid level

Barium enema

A transition zone exist between the dilated, proximal, normal bowel and the narrow distal segment

Anorectal manometry

Sphincter does not relax with increased rectal ampullary pressure

normal

failure of anal relaxation

Rectal biopsy

Full thickness biopsy gold standard Suction biopsy popular. Should be 1.5cm proximal to dentate line

Initial Treatment
Medical management
Rehydration and correction of electrolyte
imbalances Intravenous broad spectrum antibiotic therapy to prevent progression of septicaemia. Prompt rectal decompression with large-bore rectal tube with side holes Serial washouts (rectal irrigations) several times a day

Bowel washout in a patient with Hirschsprungs disease and Down syndrome.

Definitive Treatment
Surgical therapy
The basic principle is resection of the aganglionic segment followed by a pull-through (bringing down) of ganglionic bowel down to the anus while preserving normal sphincter function.
3 most common procedures that have been used
Swenson pull-through(rectosigmoidectomy) Duhamel pull-through (retrorectal transanal pullthrough) Soave pull-through(endorectal pull-through).

No prospective studies compare 3 options

technically easier & best redo operation, but increased constipation

complete excision of aganglionic segment, but possible increase in postop enterocolitis & anal stricture rate

less anterior nerve injury, but higher diarrhea and incontinence

 One-stage procedure has gained favor First successful report by So et al in 1980 Preparation:
Serial saline rectal washouts Digital rectal dilatations Last preop rectal washout with 1% neomycin IV antibiotics for entire perioperative period

Safe, cost-effective, avoids ostomy complications

 Recently the surgery is being performed in the newborn period using a laparoscopic approach
was first described in 1999 by Georgeson The transition zone is first identified laparoscopically, followed by mobilization of the rectum below the peritoneal reflection. A transanal mucosal dissection is performed, followed by prolapsing of the rectum through the anus and anastomosis.

IMPERFORATE ANUS

Definition
Imperforated anus is a congenital absence or obstruction of the anal opening. Cause Abnormality of the anorectal formation during the embryology period.

 Devided into 2 main groups

*depend on whether the termination of bowel is above/below the anorectal bundle.

Low anomaly High anomaly bowel does not connect bowel terminates above with the skin but it this sling of muscle. passes through the sling of muscle providing involuntary control occurs predominantly in girls boys, predominantly

Low anomaly
Covered anus anal orifice is covered by a tag of skin Membranous anus covered with a thin membrane Anterior ectopic anus anus is situated anteriorly Stenosed anus anal orifice is microscopic

High anomaly
Anorectal agenesis:
blind rectal pouch above pelvic floor with fistula

Rectal atresia:
normal anal canal but end blindly at level of pelvic floor. Bowel end above pelvic floor

Cloaca:
only in females. Bowel, urinary and genital tracts are all open into common wide cavity.

Clinical features
Absence of anal opening Misplaced anal opening Anal opening very near the vaginal opening in the female No passage of first stool within 24 - 48 hours after birth Stool passed by way of vagina, base of penis or scrotum, or urethra Abdominal distention

Investigation
- Congenital abnormality frequently multiple. - Also check for associated abnormalities. e.g : - Ultrasonography for urologic abnormalities - Spinal radiography for vertebral anomalies.
Absent lumbosacral vertebrae

 To determine lesion is high or low Wangensteins invertogram 12 hours after birth, the child is held upside down A metal coin is strapped to the site of anus and xray is taken If the gas shadow is above the pubo-coccygeal line-high anomaly If the distance between the coin and gas shadow is more 2.5 cm-high anomaly If gas shadow below pubococcygeal line-low anomaly

Treatment
Low anomaly Division of membrane or skin Plastic reconstuction (anoplasty)

High anomaly : repaired by 3 stages procedure 1st stage preliminary transverse colostomy to relieve intestinal obstruction 2nd stage When the child is 8-10 kg of weight, a Pull through operation is done with division of fistula 3rd stage After 2 month, colostomy is closed