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Hirschprung's disease

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SARATH t

This document summarizes Hirschsprung disease, a congenital disorder characterized by the absence of ganglia in parts of the colon, causing functional obstruction. It occurs in about 1 in 5,000 live births and is more common in boys. The ganglion cells that normally develop in the colon fail to migrate from the proximal to distal colon. This leads to dilated segments and spastic distal segments. Diagnosis involves testing for the absence of the rectoanal inhibitory reflex on manometry and lack of ganglion cells on biopsy. Treatment involves surgery to remove the aganglionic segment and reconnect the bowel, with procedures like Swenson, Duhamel, or Soave operations.

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SARATH T Final year MBBS
? Developmental disorder characterised by absence of ganglia in the distal or all part of colon resulting in a functional obstruction. ? Congenital megacolon or congenital aganglionic megacolon
Epidemiology ? 1 in 5000 live birth ? Boys > girls : 4 ? 3-5% pts have Down syndrome ? Family history ? >95% cases are full term babies
Etiology ? Ganglion cells are derived from the neural crest ? 12 weeks post conception, neural crest cells have undergone a process of migration through GI tract from proximal to distal, after which they differentiate into mature ganglion
? Neural crest cells never reach the distal bcz they mature earlier than they should ? Immunologic mechanism ? Genetic factors ? Deletion in RET gene chr. 10q11 and EDNRB gene located 13q22 and EDN 3 gene
Zones ? Proximal hypertrophied dilated bowel ? Transition zone ? Distal immobile spastic segment
Hirschprung's disease
Types ? Ultrashort segment HD ? Short segment HD ? Long segment HD ? Total colonic HD
Hirschprung's disease
Associated syndromes ? Down syndrome ? Cat eye syndrome ? Waardenburg syndrome ? Bardet biedl syndrome ? Congenital central hypoventilation syndrome
Clinical features ? In newborns ? Delayed passage of meconium ? Abdominal distension ? Vomiting ¨C bilious, green ? Neonatal enterocolitis
? In older children ? Severe constipation ¨C goat pellet like stools ? c/c abdominal distension ? Vomiting ? Failure to thrive ? On rectal exmn ¨C child passes lot of gas and meconium
Diagnosis ? History ? Physical examination
Hirschprung's disease
X-rays ? Air fluid level in colon and distended loops of intestine
Barium enema
Rectal manometry ? Absence of rectoanal inhibitory reflex ? Lack of internal anal sphincter relaxation in response to rectal stretch
Rectal biopsy ? Sample of mucosa and submucosa are obtained at 2 cm from the dentate line ? Could be performed at bedside ? Suction biopsy ? Full thickness rectal biopsy is ideal
Hirschsprung disease: Rectal mucosa (a) showing hypertrophic nerve bundle in the submucosa, increasein Acetylcholinesterase activity (b) of pattern A and negative staining with calretinin (c) note the negative staining of hypertrophic nerve fibre (arrow) with calretinin
DDs ? Total neuronal dysplasia ? Acquired megacolon ? Anorectal malformations ? Hypothyroidism ? Meconium plug syndrome
Complications ? Enterocolitis ? Intestinal obstruction ? Growth retardation ? constipation ? Perforation,peritonitis,septicaemia
Treatment ? Colostomy ? Nutritional supplementation ? Once child attains 10kg wt,definitive procedure is done ? Excision of aganglionic segment ? Maintenance of continuity by coloanal anastomosis ? Closure of colostomy later
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 anus via a perineal approach ? Completely removes defective aganglionic colon.
Hirschprung's disease
Hirschprung's disease
Hirschprung's disease
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
Hirschprung's disease
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 ? Advantage: rectal intramural dissection ensures no damage to pelvic neural structures
Hirschprung's disease
Hirschprung's disease
Operative complications ? Leak at anastamosis ? Postop enterocolitis ? Stricture formation ? incontinence
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Hirschprung's disease

  • 2. ? Developmental disorder characterised by absence of ganglia in the distal or all part of colon resulting in a functional obstruction. ? Congenital megacolon or congenital aganglionic megacolon
  • 3. Epidemiology ? 1 in 5000 live birth ? Boys > girls : 4 ? 3-5% pts have Down syndrome ? Family history ? >95% cases are full term babies
  • 4. Etiology ? Ganglion cells are derived from the neural crest ? 12 weeks post conception, neural crest cells have undergone a process of migration through GI tract from proximal to distal, after which they differentiate into mature ganglion
  • 5. ? Neural crest cells never reach the distal bcz they mature earlier than they should ? Immunologic mechanism ? Genetic factors ? Deletion in RET gene chr. 10q11 and EDNRB gene located 13q22 and EDN 3 gene
  • 6. Zones ? Proximal hypertrophied dilated bowel ? Transition zone ? Distal immobile spastic segment
  • 8. Types ? Ultrashort segment HD ? Short segment HD ? Long segment HD ? Total colonic HD
  • 10. Associated syndromes ? Down syndrome ? Cat eye syndrome ? Waardenburg syndrome ? Bardet biedl syndrome ? Congenital central hypoventilation syndrome
  • 11. Clinical features ? In newborns ? Delayed passage of meconium ? Abdominal distension ? Vomiting ¨C bilious, green ? Neonatal enterocolitis
  • 12. ? In older children ? Severe constipation ¨C goat pellet like stools ? c/c abdominal distension ? Vomiting ? Failure to thrive ? On rectal exmn ¨C child passes lot of gas and meconium
  • 15. X-rays ? Air fluid level in colon and distended loops of intestine
  • 17. Rectal manometry ? Absence of rectoanal inhibitory reflex ? Lack of internal anal sphincter relaxation in response to rectal stretch
  • 18. Rectal biopsy ? Sample of mucosa and submucosa are obtained at 2 cm from the dentate line ? Could be performed at bedside ? Suction biopsy ? Full thickness rectal biopsy is ideal
  • 19. Hirschsprung disease: Rectal mucosa (a) showing hypertrophic nerve bundle in the submucosa, increasein Acetylcholinesterase activity (b) of pattern A and negative staining with calretinin (c) note the negative staining of hypertrophic nerve fibre (arrow) with calretinin
  • 20. DDs ? Total neuronal dysplasia ? Acquired megacolon ? Anorectal malformations ? Hypothyroidism ? Meconium plug syndrome
  • 21. Complications ? Enterocolitis ? Intestinal obstruction ? Growth retardation ? constipation ? Perforation,peritonitis,septicaemia
  • 22. Treatment ? Colostomy ? Nutritional supplementation ? Once child attains 10kg wt,definitive procedure is done ? Excision of aganglionic segment ? Maintenance of continuity by coloanal anastomosis ? Closure of colostomy later
  • 23. 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 anus via a perineal approach ? Completely removes defective aganglionic colon.
  • 27. 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
  • 29. 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 ? Advantage: rectal intramural dissection ensures no damage to pelvic neural structures
  • 32. Operative complications ? Leak at anastamosis ? Postop enterocolitis ? Stricture formation ? incontinence