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Hirschsprungs disease

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PRAKASH AGARWAL

This document discusses the case of a newborn male patient presenting with symptoms of Hirschsprung's disease including abdominal distention and failure to pass meconium. Diagnostic testing revealed the absence of ganglion cells in the colon consistent with Hirschsprung's disease. The patient underwent an end colostomy and biopsy which confirmed the diagnosis. He recovered well and was discharged with plans for a future pull through surgery.

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Hirschsprungs Disease R.K.Bagdi Senior Consultant Apollo Children;s Hospital
Patient S.C. Newborn male Full-term, uncomplicated vaginal delivery Normal birth weight: 3115 g Apgars 91, 95 Mother: 36 yo, G1P0, healthy
Patient S.C. Started breast feeding DOL 1 DOL 2-3 noted to have increasing abdominal distention No meconium passed in first 24 hrs of life 1 episode Non-bilious emesis
Patient S.C.
Patient S.C. Pediatric Surgical Consult Rectal Exam Empty rectal ampulla Tight anal sphincter Large amount of stool and air upon withdrawal of finger
Patient S.C.
Patient S.C. Rectal mucosal biopsy No ganglia identified
Patient S.C.
Patient S.C. Pt taken to OR for end colostomy and Hartmanns pouch Dilated descending and sigmoid colon Prominent colonic blood vessels Site of colostomy, frozen section of colonic muscularis propria revealed ganglion cells
Patient S.C.
Patient S.C. Postoperative course uneventful Stool from colostomy POD 1 Tolerated breast feeding Discharged POD 6 2nd stage pull through procedure planned in several weeks
Hirschsprungs Disease R.K.Bagdi Apollo Childrens Hospital
Hirschsprungs Disease Neurogenic form of intestinal obstruction Absence of ganglion cells in the myenteric and submucosal plexus Failure in relaxation of the internal anal sphincter and affected bowel Upstream bowel becomes dilated secondary to functional obstruction
History 1691 Ruysch latin texts 1886 Harald Hirschsprung autopsy 1901 Tittel histologic findings 1949 Swenson pathophysiology and definitive operative treatment
Epidemiology Prevalence: 1/5000 births 3-5% of pts have Downs syndrome Definite family history 80% affected are boys Total colonic aganglionosis, 35% girls >95% cases are full term babies
Pathogenesis
Pathogenesis Failure of neural crest cells to migrate caudally Aganglionosis begins at anorectal line 80% involve only rectosigmoid area 10% extend proximal to splenic flexure 10% involves the entire colon and part of small bowel Rarely involves entire gastrointestinal tract
Pathogenesisgenetics 10th chromosome RET-protooncogene Endothelin B gene
Presentation
Presentation Severe abdominal distention 95% - failure to pass meconium in first 24 hours life Bilious vomiting Older children - constipation, failure to thrive 10-15% - severe diarrhea alternating w/ constipationenterocolitis of Hirschsprungs disease
Diagnosis Abdominal plain X-rays Barium Enema Rectal Biopsies Anal manometry
Abdominal X-ray
Barium Enema
Barium Enema Less sensitive for detecting short lesions, total colon aganglionosis, and disease of the newborn Many newborns do NOT show definitive transition zone Delayed evacuation of contrast
Rectal biopsy Submucosal suction biopsy Meissners submucosal plexus Full thickness rectal biopsy Auerbachs myenteric plexus Acetylcholinesterase staining increased staining of neurofibrils
Anorectal manometry Absent rectoanal inhibitory reflex Lack of internal anal sphincter relaxation in response to rectal stretch
Surgical Options Swenson Procedure (1948) Duhamel Procedure (1960) Soave Procedure (1963)
Swenson Procedure Sharp 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
Swenson Procedure
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
Duhamel Procedure
Soave Procedure Circumferential 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
Soave Procedure
Soave Procedure Advantage: rectal intramural dissection ensures no damage to pelvic neural structures Higher rate enterocolitis, diarrhea Problems w/ cuff abscesses, often requires repeated dilations
Overall Mortality Swenson procedure: 1-5% Duhamel procedure: 6% Soave procedure: 4-5%
Operative complications Leak at anastamosis: 5-7% Postop Enterocolitis: 19-27% Constipation Stricture Formation Incontinence
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
One vs Two Stage procedure 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%)
Laparoscopic techniques Small studies of laparoscopic pull through procedures Excised aganglionic tissues removed through anal canal, no abdominal incision Better results in terms of pain, return of bowel function, hospital stay Similar incidence of leaks, pelvic abscesses, enterocolitis, postop bowel function

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Hirschsprungs disease

  • 1. Hirschsprungs Disease R.K.Bagdi Senior Consultant Apollo Children;s Hospital
  • 2. Patient S.C. Newborn male Full-term, uncomplicated vaginal delivery Normal birth weight: 3115 g Apgars 91, 95 Mother: 36 yo, G1P0, healthy
  • 3. Patient S.C. Started breast feeding DOL 1 DOL 2-3 noted to have increasing abdominal distention No meconium passed in first 24 hrs of life 1 episode Non-bilious emesis
  • 5. Patient S.C. Pediatric Surgical Consult Rectal Exam Empty rectal ampulla Tight anal sphincter Large amount of stool and air upon withdrawal of finger
  • 7. Patient S.C. Rectal mucosal biopsy No ganglia identified
  • 9. Patient S.C. Pt taken to OR for end colostomy and Hartmanns pouch Dilated descending and sigmoid colon Prominent colonic blood vessels Site of colostomy, frozen section of colonic muscularis propria revealed ganglion cells
  • 11. Patient S.C. Postoperative course uneventful Stool from colostomy POD 1 Tolerated breast feeding Discharged POD 6 2nd stage pull through procedure planned in several weeks
  • 12. Hirschsprungs Disease R.K.Bagdi Apollo Childrens Hospital
  • 13. Hirschsprungs Disease Neurogenic form of intestinal obstruction Absence of ganglion cells in the myenteric and submucosal plexus Failure in relaxation of the internal anal sphincter and affected bowel Upstream bowel becomes dilated secondary to functional obstruction
  • 14. History 1691 Ruysch latin texts 1886 Harald Hirschsprung autopsy 1901 Tittel histologic findings 1949 Swenson pathophysiology and definitive operative treatment
  • 15. Epidemiology Prevalence: 1/5000 births 3-5% of pts have Downs syndrome Definite family history 80% affected are boys Total colonic aganglionosis, 35% girls >95% cases are full term babies
  • 17. Pathogenesis Failure of neural crest cells to migrate caudally Aganglionosis begins at anorectal line 80% involve only rectosigmoid area 10% extend proximal to splenic flexure 10% involves the entire colon and part of small bowel Rarely involves entire gastrointestinal tract
  • 18. Pathogenesisgenetics 10th chromosome RET-protooncogene Endothelin B gene
  • 20. Presentation Severe abdominal distention 95% - failure to pass meconium in first 24 hours life Bilious vomiting Older children - constipation, failure to thrive 10-15% - severe diarrhea alternating w/ constipationenterocolitis of Hirschsprungs disease
  • 21. Diagnosis Abdominal plain X-rays Barium Enema Rectal Biopsies Anal manometry
  • 24. Barium Enema Less sensitive for detecting short lesions, total colon aganglionosis, and disease of the newborn Many newborns do NOT show definitive transition zone Delayed evacuation of contrast
  • 25. Rectal biopsy Submucosal suction biopsy Meissners submucosal plexus Full thickness rectal biopsy Auerbachs myenteric plexus Acetylcholinesterase staining increased staining of neurofibrils
  • 26. Anorectal manometry Absent rectoanal inhibitory reflex Lack of internal anal sphincter relaxation in response to rectal stretch
  • 27. Surgical Options Swenson Procedure (1948) Duhamel Procedure (1960) Soave Procedure (1963)
  • 28. Swenson Procedure Sharp 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
  • 30. 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
  • 32. Soave Procedure Circumferential 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
  • 34. Soave Procedure Advantage: rectal intramural dissection ensures no damage to pelvic neural structures Higher rate enterocolitis, diarrhea Problems w/ cuff abscesses, often requires repeated dilations
  • 35. Overall Mortality Swenson procedure: 1-5% Duhamel procedure: 6% Soave procedure: 4-5%
  • 36. Operative complications Leak at anastamosis: 5-7% Postop Enterocolitis: 19-27% Constipation Stricture Formation Incontinence
  • 37. 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
  • 38. One vs Two Stage procedure 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%)
  • 39. Laparoscopic techniques Small studies of laparoscopic pull through procedures Excised aganglionic tissues removed through anal canal, no abdominal incision Better results in terms of pain, return of bowel function, hospital stay Similar incidence of leaks, pelvic abscesses, enterocolitis, postop bowel function

Editor's Notes

  • #5: Dilated small and large bowel loops, prominent transverse, descending, sigmoid
  • #7: Narrow rectum, dilated sigmoid colon, normal appearing remaining large bowel.
  • #9: Minimal residual contrast left in colon