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Hirschsprung Disease - Approach & Management

Hirschsprung disease is a congenital disorder caused by the absence of ganglion cells in the bowel, leading to functional intestinal obstruction, primarily affecting neonates. It has an incidence of 1 in 5000 live births and can involve varying lengths of the intestine, with genetic factors playing a significant role in its pathophysiology. Diagnosis typically involves imaging and rectal biopsy, and treatment often involves surgical procedures to remove the aganglionic bowel and restore normal bowel function.

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Hirschsprung Disease Chair Persons : Dr. Aravind K L                       Dr. Chandrakanth Madiwal Department of Pediatric Surgery , MMCRI       Presenter : Dr. Vikas V                           
Defnition  Hirschsprung disease is a developmental disorder of the intrinsic component of the enteric nervous system  Hirschsprung’s disease (congenital megacolon) is a congenital anomaly and a familial condition caused by migratory failure of neural crest cells leading to abnormal innervations of the bowel i.e absence of intramural ganglion cells (Myentric Auerbachs’s plexus and submucosal Meissner’s plexus) more commonly in anorectum but can involve the entire intestine .
Introduction  The incidence of Hirschsprung disease is approximately 1 in 5000 live- born infants  Hirschsprung’s disease - MCC of Functional Lower intestinal obstruction in neonates.  Because these cells are responsible for normal peristalsis, patients present with functional intestinal obstruction AT the level of aganglionosis  In most cases the aganglionosis involves the rectum or rectosigmoid, but it can extend for varying lengths, and in 5% to 10% of cases can involve the entire colon or even a significant amount of the small intestine  The defect begins in the Internal Anal Sphincter and extends proximally for a variable length of gut.
HISTORY 1691 Ruysch latin texts - 5- year-old child dying from an intestinal obstruction 1800 Battini – an account of a child with congenital megacolon  1886 Harald Hirschsprung – Newborn's bowel movement as a result of dilatation and hypertrophy of the colon – Autopsy Findings 1901 Tittel – histologic fndings - The absence of ganglion cells in the distal colon 1946 Ehrenpreis - The frst surgical recognition of aganglionosis as the cause of congenital megacolon  1949 Swenson – pathophysiology and defnitive operative treatment rectosigmoidectomy with preservation of the sphincters
Epidemiology  1:5000 live births  Male:Female is   4:1 for short segment,  1:1 for longer segment disease  Family History exists in 7% cases  15% have at least one other congenital anomaly including: A) Cardiac       B) Genito Urinary tract       C) CNS      D) Other GI ( Malrotaion )  Down’s syndrome in 2 to 8% of individuals with Hirschsprung  Major assosciated syndromes :Trisomy-21, congenital central hypoventilation syndrome and Waardenburg syndrome .  Other assosciated syndromes - Bardet-Biedl , Goldberg- Shprintzen syndrome, Smith-Lemli-Opitz syndrome, neurofibromatosis, neuroblastoma,
Migration of  Neural Crest Cells 
PathoPhysiology
Etiology & PathoPhysiology  2 Theories  Migration Theory :  Neural crest cells never reach distal intestine  Earlier Maturation or Differentiation into Ganglion cells   Survival Theory : Ganglion cells reach destination BUT fail to survive or proliferate Smooth muscle and Extracellular matrix in Aganglionic bowel provides an inhospitable microenvironment for neuronal growth Hirschsprung disease is actually a heterogeneous condition with multiple genetic causes and etiologic mechanisms, so each of these theories may be true in individual cases.
Genetics  At least eight genes have been identified in patients with Hirschsprung disease with the predominant gene being the RET proto-oncogene.   The RET gene codes for a receptor tyrosine kinase which contributes to growth and differentiation in neural crest cells as well as in other tissues throughout the body. RET abnormalities more common in familial and long-segment disease       It is necessary for the migration and survival of enteric neurons.  Other genes that have been identified include  Endothelin Family : endothelin 3, endothelin receptor B,                                       endothelin converting enzyme,   SOX10 , S1P1 (now known as ZFHX1B) and PHOX2B  Mechanism : produce early maturation or differentiation of NCC, which decreases the number of available progenitor cells and prevents NCCs from migrating any further.
Types  Short segment- aganglionisis restricted to the rectum                                 and sigmoid colon (in 75% patient)  Long segment- involves the proximal colon                               (in 15% patient)  Total colonic - involves entire colon and                                                portion of terminal ileum. (in 10% patient)  Other Rare Varients – A) Ultra Short Segment                                           B) Total Intestinal Varient
Zones It has got 3 zones:  Aganglionic zone-   Distal immobile spastic smegment  Transitional Zone- (Cone)   Proximal, middle, about 1-5cm length with less number of ganglions  Hypertrohied dilated segment-  More proximal, normal ganglionic area.
The Enteric nervous system & Hirschsprung disease
Clinical Features  Failure to pass meconium in the 1st 24h of life  98% of neonates pass meconium in the first 24 hours of age  Any newborn who fails to pass meconium in the first 24-48 hours of life should be evaluated for possible Hirschsprung's disease.  Characteristic but only present in approximately 90% cases  Neonatal Intestinal obstruction  Symptoms include Bilious vomiting, Abdominal distension and Refusal to feed.  Recurrent Enterocolitis (HAEC)  Mainly in the 1st three months of life.  Severe diarrhea alternating with constipation  May be chronic, or may be severe and life-threatening
Clinical Features  Spontaneous perforation   occurs in 3%, especially if long segment aganglionosis.  Chronic constipation   Some patients present later in childhood, or even during adulthood, with chronic constipation.   This is most common among breast-fed infants, who typically develop constipation around the time of weaning.  And may have Growth retardation. Multiple fecal masses on abdominal examination.
Mechanisms underlying Hirschsprung- disease-associated enterocolitis.
 Alterations in the intestinal barrier, including goblet cell number and function, and Paneth cell function, impaired gastrointestinal mucosal immunity, including B-lymphocyte trafcking or function and secretory immunoglobulin A production, and dysbiosis of the intestinal microbiota may contribute to the development of HAEC
HAEC Scoring for Positive Diagnosis
Presentation
 History  Failure to pass meconium, painless abdomenal distension & constipation)  Abdominal distention  Bilious vomitting  In children passage of goat pellet like stools associated with malnutrition and chronic constipation  Physical examinations  Distended abdomen with Multiple fecal masses on abdominal examination  on DRE characteristically there is   Anal sphincter is hypertonic   Rectum is typically empty.   Passing explosive stools after DRE with excessive gas.
Investigations  Plain Erect X ray Abdomen - Intestinal Obstruction  Barium Enema - Extent of Disease, Zones  Rectal biopsy - current international GOLD STANDARD  Anorectal manometry
Plain Erect Abdominal X ray • Dilated Bowel Loops • Absence of Air shadows in Rectum
Barium Enema  First step in diagnostic pathway - Water-Soluble contrast Enema.  Pathognomonic finding - A transition zone between the normal and aganglionic bowel  In both neonates and older children, Most important view is the lateral projection, in which a rectal transition zone will be most evident  Reversed recto-sigmoid index  Retention of contrast in the colon on a 24-hour postevacuation film
Barium enema demonstrates a reduced caliber rectum and sigmoid (the rectum is smaller than the descending colon) with a saw-tooth appearance . A transition point is seen at the junction between sigmoid and descending colon. Post evacuation flm demonstrates the transition point more obviously. 
ANORECTAL MANOMETRY  The Recto-Anal Inhibitory Refex (RAIR) is defned as refex relaxation of the internal anal sphincter in response to rectal distension  RAIR present in normal children but ABSENT in those with Hirschsprung disease  Documented using anorectal manometry by infating a balloon in Rectum while simultaneously measuring the internal sphincter pressure
RECTAL BIOPSY  Gold Standard diagnostic technique  Definitive finding - Absence of ganglion cells in the submucosal and myenteric plexuses  Biopsy Taken 1 to 1.5 cm above Dentate Line  Submucosal suction biopsy  Meissner’s submucosal plexus  Full thickness rectal biopsy  Auerbach’s myenteric plexus  Acetylcholinesterase staining  Increased staining of neurofibrils  Immunochemical identification of calcitonin,  Most accurate   Almost always ABSENT in Patients with Hirschsprung
Suction Biopsy  Lubricated instrument inserted into the anus and side hole positioned at 3 cm from anal verge  Procedure repeated at 3.5cm and 4cm above the anal verge  2-4 specimens are collected
Open rectal biopsy  Open rectal biopsy under general anesthesia is required when the specimen obtained with the Rectal Suction Biopsy instrument is inadequate or the child is older
Preoperative Management  First priority is resuscitation - in neonates with intestinal obstruction or children presenting with enterocolitis.  Intravenous fluids and broad-spectrum antibiotics, NG tube  Decompression of the colon using digital rectal stimulation, irrigations, or occasionally an emergency stoma  Once a child has been resuscitated and stabilized, operation can be done semielectively.
Leveling colostomy – operative technique   Preoperative preparation  Rectal washouts  Broad-spectrum, intravenous antibiotics just prior to incision   No formal bowel preperation is required or efective   Incision  Oblique incision in left lower quadrant  If level of aganglionosis is not readily apparent, incision can be extended transversely across the midline.
Pull-through Procedure forHirschsprung Disease  To remove the aganglionic bowel and reconstruct the intestinal tract by bringing the normally innervated bowel down to the anus while preserving normal sphincter function  Operative Procedures:  Swenson Procedure (1948)  Duhamel Procedure (1960)  Soave Procedure (1963)
Svenson's Procedure  Swenson’s goal was removal of the entire aganglionic colon, with an end-to-end anastomosis above the anal sphincter  Sharp extrarectal dissection down to 2 cm above the anal canal  Careful attention to dissection tightly on the rectal wall  avoid injury to deep pelvic nerves, vessels, and other structures such as vagina, prostate, vas deferens, and seminal vesicles  Long term outcome : report excellent functional results with respect to continence, urinary, and sexual function
Duhamel operation  Retrorectal approach for the pulled-through colon to anal opening  Partial disruption of internal anal sphincter posteriorly  Preservation of the anterior wall of the rectum & its nerve supply  Elimination of colo-rectal septum with wide side-to- side anastomosis (stapled/crushed) between the anterior aganglionic & pulled down ganglionic colon
Duhamel's Procedure  Colostomy mobilised & dismanteled, transected  4 stages  Mobilisation of upper colon & closure of the rectum  Preparation of retrorectal space  Endoanal incision  Retrorectal pull-through procedure   Disadvantages   Incomplete division of the colo-rectal septum   Occurrence of stenosis
• A semicircular incision (posterior 180 0 ) is made on the rectal wall between silk stay sutures placed at 3, 6 & 9 O’ clock positions • The incision should be 0.5 – 1.0 cm proximal to the dentate line
SOAVE’S (BOLEY SCOT) ENDORECTAL PULL-THROUGH  The operation based on removing the mucosa and submucosa of the rectum and pulling ganglionic intestine through the aganglionic muscular cuf  By remaining within the muscular cuf of the aganglionic segment, important sensory fbers and the integrity of the internal sphincter are preserved.  Avoids injury to the pelvic nerves
    A. Soave          B. Swenson        C. Duhamel. 
Comparative representation of 3 procedures
Primary Versus Staged Pull-through  • Principle  Colonic dilatation can be quickly controlled by rectal washouts - Calibre of the pull-through bowel is near normal-allows accurate anastomosis- minimizes leakage & cuff infection   Advantages of primary pull-through in neonates  Specific stoma complications are avoided  Anal function and the anorectal reflex are reestablished as early as possible.  If attempted in older children hugely dilated colon segment (normal ganglionic segment)needs to be resected
Selection criteria for Primary Pull- through
Surgeries For Long Segment Hirschsprung Disease Martin procedure Consists of a Duhamel reconstruction that extends proximally to involve the entire left colon
Kimura's Procedure  Kimura, using the rationale that the right colon is better at water absorption than the left colon  Advocated a staged procedure, in which the right colon is anastomosed side-to-side to the ileum
The “ileo-colon” is then disconnected from the right colonic blood supply after several months and anastomosed above the anal sphincter
Surgeries for Near Total Aganglionosis  For children who develop significant proximal dilatation of the normally innervated bowel,  tapering,   imbrication, or  bowel-lengthening procedures such as the   Bianchi Procedure  Serial Transverse Enteroplasty (STEP) procedure may be used.  Zeigler has popularized a technique known as “myectomy-myotomy,” in which a length of aganglionic small bowel distal to the transition zone undergoes myectomy
Bianchi Procedure STEP Procedure
Post Operative Care  The anastomosis should be calibrated with an appropriately sized dilator or finger 1 to 2 weeks after the procedure & perform weekly calibration for a period of 4 to 6 weeks  Wound infection or intra-abdominal bleeding, anastomotic complications such as leak or stricture  Intestinal perforation can occur at a proximal biopsy site due to back pressure from anal sphincter spasm  Close monitoring for and early treatment of these complications is imperative
Operative complications   Leak at anastamosis: 5-7%   Postop Enterocolitis: 19-27%   Constipation   Stricture Formation   Incontinence  Mechanical Obstruction
Case Study  2 day old baby -  History – Not passed Meconium since Birth.  Examination – Abdominal Distension +  On Repeated Rectal washes – Baby passed Meconium,                                                            Abdominal Distension subsided  Barium Enema – Reversal of Recto sigmoid Ratio +  Rectal Biopsy – Hirschsprung Disease confirmed.  Sx  - High Loop end Colostomy   Intra Op – Doughnut biopsy at the level of stoma (distal sigmoid, seromuscular biopsy from proximal sigmoid and mid sigmoid . All are ganglionated.
References  Pediatric Surgery, 7th Edition, Arnold G Coran  Hirschsprung, H. Stuhlträgheit neugeborener in folge von dilatation und hypertrophie des colons. Jahrbuch Kinderheilkunde Physische Erziehung (Berlin) 27, 1–7 (1888).  Enteric nervous system development and Hirschsprung disease: advances in genetic and stem cell studies. Nat Rev Neurosci. 2007 Jun;8(6):466-79.  Operative Pediatric Surgery, 7th edition, Lewis Spitz and Arnold G Coran
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