6/23/2016

PediatricImperforateAnus:Background,Pathophysiology,Epidemiology

PediatricImperforateAnus
Author:NelsonGRosen,MD,FACS,FAAPChiefEditor:CarmenCuffari,MDmore...
Updated:Nov17,2014

Background
Anorectalmalformationsincludeawidespectrumofdefectsinthedevelopmentof
thelowestportionoftheintestinalandurogenitaltracts.Manychildrenwiththese
malformationsaresaidtohaveanimperforateanusbecausetheyhavenoopening
wheretheanusshouldbe.Althoughthetermmayaccuratelydescribeachild's
outwardappearance,itoftenbeliesthetruecomplexityofthemalformation
beneath.Whenamalformationoftheanusispresent,themusclesandnerves
associatedwiththeanusoftenhaveasimilardegreeofmalformation.Thespine
andurogenitaltractmayalsobeinvolved.
Thepositionandnatureofthesemalformationsmaderepairdifficultforearly
surgeons.Theaffectedorgansarelocateddeepinthepelvisandarenotwell
visualizedthroughabdominalincisions.Traditionalsurgicaldictumdidnotallowfor
divisionoftheposteriormidlinebecausethisdivisionofthemusclewasbelieved,
somewhaterroneously,tocauseincontinenceinthechild.Therefore,surgeons
approachedthesemalformationsusingacombinedabdominal,sacral,andperineal
approach,withlimitedvisibility.Suchapproacheshaveputcontinence,and
surroundinggenitourinarystructures,atgreaterriskthansimplycuttingsphincter
musclesbecauseofthedifficultyofadequatelyvisualizingthemalformationthrough
limitedincisions.Thisprinciplewascentraltothedevelopmentofthesurgical
techniquescurrentlyusedtorepairthesemalformations.
In1982,Peaetalreportedtheresultsoftheuseofaposteriorsagittalsurgical
repairapproach. [1]Peaetalusedthetraditionalapproachwithasacralincision
andmadetheincisionsprogressivelylargerinanattempttoadequatelyvisualize
theanatomy.Eventually,theentireposteriorsagittalplanewasopened,affordinga
fullviewofthecompletemalformation.Thistechnique,referredtoasposterior
sagittalanorectoplasty(PSARP)orposteriorsagittalanorectovaginourethroplasty
(PSARVUP),hasledtoamorecompleteunderstandingoftheanatomyofthese
childrenandofwhatisrequiredtorepairthemalformationswithoptimalresults.
Afterreconstructivesurgeryforthemalformation,manychildrenstillexperience
effectsintheformofurinaryorfecalincontinence.Despiteoptimalsurgical
management,noadequaterepairforpoorlydevelopedmusclesornerveshasbeen
developed.Bowelmanagementregimenscanprovideanexcellentqualityoflifefor
thesechildrenwhenprimarycontinenceisnotachievable.

Pathophysiology
Theembryogenesisofthesemalformationsremainsunclear.Therectumandanus
arebelievedtodevelopfromthedorsalpotionofthehindgutorcloacalcavitywhen
lateralingrowthofthemesenchymeformstheurorectalseptuminthemidline.This
septumseparatestherectumandanalcanaldorsallyfromthebladderandurethra.
Thecloacalductisasmallcommunicationbetweenthe2portionsofthehindgut.
Downgrowthoftheurorectalseptumisbelievedtoclosethisductby7weeks'
gestation.Duringthistime,theventralurogenitalportionacquiresanexternal
openingthedorsalanalmembraneopenslater.Theanusdevelopsbyafusionof
theanaltuberclesandanexternalinvagination,knownastheproctodeum,which
deepenstowardtherectumbutisseparatedfromitbytheanalmembrane.This
separatingmembraneshoulddisintegrateat8weeks'gestation.
Interferencewithanorectalstructuredevelopmentatvaryingstagesleadstovarious
anomalies,rangingfromanalstenosis,incompleteruptureoftheanalmembrane,
oranalagenesistocompletefailureoftheupperportionofthecloacatodescend
andfailureoftheproctodeumtoinvaginate.Continuedcommunicationbetweenthe
urogenitaltractandrectalportionsofthecloacalplatecausesrectourethralfistulas
orrectovestibularfistulas.
Theexternalanalsphincter,derivedfromexteriormesoderm,isusuallypresentbut
hasvaryingdegreesofformation,rangingfromrobustmuscle(perinealorvestibular
fistula)tovirtuallynomuscle(complexlongcommonchannelcloaca,prostaticor
bladderneckfistula).

Epidemiology
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PediatricImperforateAnus:Background,Pathophysiology,Epidemiology

Frequency
UnitedStates
Anorectalmalformationsoccurinapproximately1newbornper5000livebirths.

Mortality/Morbidity
Anorectalandurogenitalmalformationsarerarelyfatal,althoughsomeassociated
anomalies(cardiac,renal)canbelifethreatening.Intestinalperforationor
postoperativesepticcomplicationsinanewbornwithimperforateanuscanresultin
mortalityorseveremorbidity. [2]
Morbiditygenerallyarisesfromthefollowing2sources:
Malformationrelatedmorbidity
Malformationrelatedmorbidityrelatestoassociatedmalformationsof
rectalmotility,anorectalinnervation,andsphinctericmusculature.The
mostcommonmorbidityinthiscategoryisconstipation.Mostchildren
havemildmalformationsthatcommonlyresultinconstipationfor
reasonsthatremainunclear.Ifleftuntreated,chronicconstipation
resultsinrectaldilation,whichworsenstheconstipation.This
becomesaviciouscycle,which,ifuntreated,resultsinfecalimpaction
andoverflowpseudoincontinence,alsoknownasencopresis.
Themostsevereformsofmalformationassociatedmorbidityarefecal
andurinaryincontinence.Highermalformations,suchaslong
commonchannelcloacaeandprostaticorbladderneckfistulas,are
associatedwithpoorernerveandmuscleformation,allofwhich
increasethelikelihoodoffecalorurinaryincontinence.Malformations
thatdirectlyinvolveurinarysphinctericmechanisms,and,specifically,
anymalformationinwhichtherectumorvaginajoinstheurinarytract
atthebladderneck,oftenresultsineitherurinaryincontinenceor
inabilitytocompletelyvoid.
Surgeryrelatedmorbidity
Thiscanincludestandardcomplicationssuchaslineinfectionsand
pneumonia.
Woundinfectionsoranastomoticbreakdownscanoccurinany
intestinalsurgery.
Childrenwithimperforateanusareatgreaterriskforinjuryto
surroundingpelvicorgansbecausetheseorgans(suchasvaginaor
urethraandseminalvesicles)arelocatedimmediatelyadjacenttothe
rectum,andmayalsobeinvolvedinthemalformationinsome
unsuspectedway.
Duringblindexplorationinthepelvis,adilateduretercanbemistaken
fortherectum.Urethrascanbeopenedortransected,andprostates
orseminalvesicalscanbeeasilyinjured.Dissectionofthesedelicate
structurescanresultinischemiaandpossiblestrictureorcomplete
stenosis.

Race
Noknownracialpredilectionhasbeenreported.

Sex
Noknownsexpredilectionhasbeenreported.

Age
Mostchildrenwithananorectalmalformationareidentifieduponroutinenewborn
physicalexamination.Delayedpresentationisoftentheresultofincompleteinitial
examination.Newbornanorectalandurogenitalexaminationcanbetechnically
challengingandmakesmanypractitionersuncomfortable.
Subtlemalformations,suchasthoseinsomechildrenwithperinealfistulathatmay
looknormaltothecasualglance,maypresentmonthsoryearsafterbirthwhenthe
childpresentstoaprimarycareproviderforconstipationorurinarytractinfection
andappearstohaveasmallperinealbodyuponphysicalexamination.
Anorectalmalformationsinfemaleswithanormalappearinganuswhohaveabsent
vaginaorpersistenturogenitalsinusmaygoundiagnosedforyearsbecauseof
examinerreluctancetoseparatethelabiaduringphysicalexamination.These
malformationscanbediscovereduponevaluationforurinarytractinfectionor
primaryamenorrhea.
ClinicalPresentation

ContributorInformationandDisclosures
Author
NelsonGRosen,MD,FACS,FAAPAssistantProfessorofSurgeryandPediatrics,AlbertEinsteinCollegeof
MedicineAttendingPediatricSurgeonandDirector,PediatricTraumaCenter,DepartmentofPediatricGeneral
Surgery,SchneiderChildren'sHospital
NelsonGRosen,MD,FACS,FAAPisamemberofthefollowingmedicalsocieties:AmericanAcademyof
Pediatrics,AmericanCollegeofSurgeons,AmericanPediatricSurgicalAssociation,AmericanTraumaSociety,
AssociationofMilitarySurgeonsoftheUS,EasternAssociationfortheSurgeryofTrauma,Canadian

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PediatricImperforateAnus:Background,Pathophysiology,Epidemiology

AssociationofPediatricSurgeons
Disclosure:Nothingtodisclose.
SpecialtyEditorBoard
MaryLWindle,PharmDAdjunctAssociateProfessor,UniversityofNebraskaMedicalCenterCollegeof
PharmacyEditorinChief,MedscapeDrugReference
Disclosure:Nothingtodisclose.
CarmenCuffari,MDAssociateProfessor,DepartmentofPediatrics,DivisionofGastroenterology/Nutrition,
JohnsHopkinsUniversitySchoolofMedicine
CarmenCuffari,MDisamemberofthefollowingmedicalsocieties:AmericanCollegeofGastroenterology,
AmericanGastroenterologicalAssociation,NorthAmericanSocietyforPediatricGastroenterology,Hepatology
andNutrition,RoyalCollegeofPhysiciansandSurgeonsofCanada
Disclosure:ReceivedhonorariafromPrometheusLaboratoriesforspeakingandteachingReceivedhonoraria
fromAbbottNutritionalsforspeakingandteaching.
ChiefEditor
CarmenCuffari,MDAssociateProfessor,DepartmentofPediatrics,DivisionofGastroenterology/Nutrition,
JohnsHopkinsUniversitySchoolofMedicine
CarmenCuffari,MDisamemberofthefollowingmedicalsocieties:AmericanCollegeofGastroenterology,
AmericanGastroenterologicalAssociation,NorthAmericanSocietyforPediatricGastroenterology,Hepatology
andNutrition,RoyalCollegeofPhysiciansandSurgeonsofCanada
Disclosure:ReceivedhonorariafromPrometheusLaboratoriesforspeakingandteachingReceivedhonoraria
fromAbbottNutritionalsforspeakingandteaching.
AdditionalContributors
HishamNazer,MB,BCh,FRCP,,DTM&HProfessorofPediatrics,ConsultantinPediatricGastroenterology,
HepatologyandClinicalNutrition,UniversityofJordanFacultyofMedicine,Jordan
HishamNazer,MB,BCh,FRCP,,DTM&Hisamemberofthefollowingmedicalsocieties:AmericanAssociation
forPhysicianLeadership,RoyalCollegeofPaediatricsandChildHealth,RoyalCollegeofSurgeonsinIreland,
RoyalSocietyofTropicalMedicineandHygiene,RoyalCollegeofPhysiciansandSurgeonsoftheUnited
Kingdom
Disclosure:Nothingtodisclose.
Acknowledgements
DanielABeals,MDAttendingStaff,CornerstonePediatricSurgery
DanielABeals,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofPediatrics,American
CollegeofPhysicians,AmericanPediatricSurgicalAssociation,AmericanSocietyforBioethicsandHumanities,
KentuckyMedicalAssociation,SocietyforFetalUrology,SocietyofCriticalCareMedicine,andSoutheastern
SurgicalCongress
Disclosure:Nothingtodisclose.

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