HIRSCHSPRUNG DISEASE.pdf AGANGLIONIC MEGACOLON, CONGENITAL MEGACOLON

Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the distal intestine.

Because these cells are responsible for normal peristalsis, patients with Hirschsprung disease present with functional intestinal obstruction at the level of aganglionosis.
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.
Although most children who present after the neonatal period have short-segment disease, this history may also be found in those with longer segment or even total colonic involvement, particularly if the child has been exclusively breast-fed.
The etiology of HAEC is controversial.
The most common theory is that stasis caused by functional obstruction due to the aganglionic bowel permits bacterial overgrowth with secondary infection.
Infectious agents such as Clostridium difficile or Rotavirus have been postulated as being causative, but there are few data to support a specific pathogen.
Can occur in either pre or post operative period (sometimes both)

1. HIRSCHSPRUNG
DISEASE
DR SETH JOTHAM
LECTURER –DEPARTMENT OF SURGERY

2. OUTLINE
•Introduction
•Etiology
•Presentation
•Investigations
•Treatment

3. Synonyms
@ CONGENITAL MEGACOLON
@ AGANGLIONIC MEGACOLON

4. Introduction
•Hirschsprungdiseaseisadevelopmentaldisorderoftheenteric
nervoussystemthatischaracterizedbytheabsenceofganglioncells
inthemyentericandsubmucosalplexusesofthedistalintestine.
•Becausethesecellsareresponsiblefornormalperistalsis,patients
withHirschsprungdiseasepresentwithfunctionalintestinal
obstructionatthelevelofaganglionosis.

5. Epidemiology
•TheincidenceofHirschsprungdiseaseisapproximately1in
5000live-borninfants
•M:F=4:1

6. Parts involved
•Inmostcasestheaganglionosisinvolvestherectumor
rectosigmoid.
•Butitcanextendforvaryinglengths,andin5%to10%of
casescaninvolvetheentirecolonorevenasignificant
amountofthesmallintestine.

7. Embryology
•Ganglioncellsarederivedfromtheneuralcrest.
•By13weekspostconception,theneuralcrestcellshaveundergonea
processofmigrationthroughthegastrointestinaltractfromproximal
todistal,
•Afterwhichtheydifferentiateintomatureganglioncells.
•IninfantswithHirschsprungdiseasethisprocessisdisturbed,sothe
ganglioncellsareabsentinthedistalbowel.

8. ….

9. .

10. .

11. Etiological theories : 1
I.Theneuralcrestcellsneverreachthedistalintestine
becausetheyeithermatureordifferentiateintoganglion
cellsearlierthantheyshould.
Themostprevalent

12. Etiological theories : 2
II. The ganglion cells do reach their destination but fail to survive or
proliferate.

13. Associated anomalies
•Trisomy 21
•Neurofibromatosis
•Congenital hypoventilation syndrome

14. CLINICAL PRESENTATION

15. Neonatal Obstruction
•Approximately50%to90%ofchildrenwithHirschsprungdisease
presentduringtheneonatalperiodwith;
Abdominaldistension,
Biliousvomiting,and
Feedingintolerancesuggestiveofdistalintestinalobstruction
Delayedpassageofmeconiumbeyondthefirst24hoursis
characteristicandpresentinapproximately90%ofchildrenwith
Hirschsprungdisease.
•Insomepatientscecalorappendicealperforationmaybetheinitial
event.

16. Ddx
•Intestinal atresia
•Meconium ileus
•Meconiumplug syndrome
or a number of other less common conditions.

17. Chronic Constipation
•Somepatientspresentlaterinchildhood,orevenduringadulthood,
withchronicconstipation.
•Thisismostcommonamongbreast-fedinfants,whotypicallydevelop
constipationaroundthetimeofweaning.
•Althoughmostchildrenwhopresentaftertheneonatalperiodhave
short-segmentdisease,thishistorymayalsobefoundinthosewith
longersegmentoreventotalcolonicinvolvement,particularlyifthe
childhasbeenexclusivelybreast-fed.

18. Because constipation is frequently seen in
childhood, it may be difficult to differentiate:
Hence:withconstipation,clinicalfeaturesthatpointtoHDdiagnosis
include
•Failuretopassmeconiuminthefirst48hoursoflife
•Failuretothrive,grossabdominaldistention,and
•Dependenceonenemaswithoutsignificantencopresis.

19. Enterocolitis (HAEC)
•TheetiologyofHAECiscontroversial.
•Themostcommontheoryisthatstasiscausedbyfunctional
obstructionduetotheaganglionicbowelpermitsbacterial
overgrowthwithsecondaryinfection.
•InfectiousagentssuchasClostridiumdifficileorRotavirushavebeen
postulatedasbeingcausative,buttherearefewdatatosupporta
specificpathogen.
•Canoccurineitherpreorpostoperativeperiod(sometimesboth)

20. HAEC SCORE

21. What is the most common cause of death in children with HD?

22. ANS
ENTEROCOLITIS

23. How do you manage post op HAEC ?

24. ANS
Nasogastricdrainage,
Intravenousfluids
Broad-spectrumantibioticsand
Decompressionoftherectumandcolonusingrectalstimulationor
irrigations.

25. Can post op HAEC be prevented?

26. ANS
•Routineirrigations
•Chronicadministrationofmetronidazoleorprobioticagents,
particularlyinthosewhoarethoughttobeathigherrisk.

27. HD RADIOLOGY

28. Contrast enema
Note:
•InNeonateitisimportanttouseawater-solublematerialbecause
theenemamaypotentiallybeadefinitivetreatmentforother
conditionsinthedifferentialdiagnosissuchasmeconiumileusand
meconiumplugsyndrome.
•Inolderchildrenanunpreppedbariumenemashouldbedonerather
thanawater-solublecontraststudy.
•Inbothneonatesandolderchildren,themostimportantviewisthe
lateralprojection,inwhicharectaltransitionzonewillbemost
evident

29. Findings : 1
•Thepathognomonicfindingof
Hirschsprungdiseaseoncontrast
enemaisatransitionzone
betweenthenormaland
aganglionicbowel
•Presentinabout90%ofpatients

30. Describe;

31. Describe and DX;

32. Findings 2:Recto –sigmoid ratio/Index
•Thenormalrectosigmoidindex
is≥1.
•InstandardlengthHDthe
rectosigmoidindexis≤1.

33. Finding 3: After 24 hours
•Contrast retention after 24hrs

34. ANORECTAL MANOMETRY FOR HD

35. Finding: The recto-anal inhibitory reflex
(RAIR)
•isdefinedasreflexrelaxationoftheinternalanalsphincterin
responsetorectaldistensionandispresentinnormalchildrenbut
absentinchildrenwithHirschsprungdisease.
•TheRAIRcanbedocumentedusinganorectalmanometrybyinflating
aballoonintherectumwhilesimultaneouslymeasuringtheinternal
sphincterpressure

36. A. In the child without Hirschsprung disease undergoing
anorectal manometry, the recto-anal inhibitory reflex is
normal.
Note
the drop in the internal sphincter pressure with rectal
distention.

37. RECTAL BIOPSY

38. Technique
•Becausethereisnormallyapaucityofganglioncellsinthearea0.5to
1cmabovethedentateline,thebiopsyshouldbetakenatleast1to
1.5cmaboveit.

39. What are the findings suggestive of HD in histopathology?

40. ANS
•Absence of ganglion cells in the submucosal and myenteric plexuses .
•Most patients will also have evidence of hypertrophied nerve trunks.

41. Preoperative Management
•InmostcasesthetreatmentofHirschsprungdiseaseissurgical.
However,thereareanumberofimportantpreoperative
interventionsthatmustbeconsideredbeforedefinitivesurgical
intervention.
•ThefirstpriorityisRESUSCITATION,particularlyinneonates
withintestinalobstructionorchildrenpresentingwith
enterocolitis.
•Inbothgroups,intravenousfluidsandbroad-spectrum
antibioticsagainstentericorganismsshouldbeadministered,
andanasogastrictubeshouldbeinserted.

42. Cont.…
•ChildrenwithASSOCIATEDABNORMALITIES suchascardiac
diseaseorcongenitalcentralhypoventilationsyndromemustbe
investigatedandmanagedbeforedefinitivesurgicalrepair.
•Childrenwithenterocolitisorthoseinwhomimmediatesurgery
cannotbedoneforotherreasonsshouldundergo
decompressionofthecolonusingdigitalrectalstimulation,
irrigations,oroccasionallyanemergencystoma.

43. What’s the definitive treatment?

44. ANS
PULL-THROUGH PROCEDURE/ SURGERY

45. What are the three alternatives for the pull through?

46. ANS
•SWENSON
•SOAVE
•DUHAMEL

47. .

48. ASSIGMENT
Account for possible complications after a pull-through procedure on a
2 years old male patient.