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International Journal of Surgery Case Reports
j o ur na l h o m e p a g e :w w w . c a s e r e p o r t s . c o m
Challenges and experiences in correcting scoliosis of a patient with Marfan Syndrome: A case report
Singkat Dohar Apul Lumban Tobing, Danar Lukman Akbar
∗DepartmentofOrthopaedic&Traumatology,CiptoMangunkusumoNationalCentralHospitalandFacultyofMedicine,UniversitasIndonesia,Jalan DiponegoroNo.71,JakartaPusat,Jakarta,10430,Indonesia
a rt i c l e i nf o
Articlehistory:
Received22May2020 Receivedinrevisedform 13September2020 Accepted22September2020 Availableonline28September2020
Keywords:
MarfanSyndrome Scoliosiscorrection Casereport
a b s t ra c t
INTRODUCTION:Althoughcommon,itisnotalwayseasytotreatscoliosisinMarfanSyndrome.The distinguishedanatomicalcomponentsmakeithardertotreattheentity,albeitmanagingthewhole patient.Itisalreadywidelyknownthatthecorrectionrequiresanimmersivepreoperativeplanning aswellasavastsurgeonexperienceinordertopreparedlyfacethepossiblethatmayhappenintra operativelyandpostoperatively.
CASEPRESENTATION:WepresentacaseofpatientwithMarfan’ssyndromepresentingtoouroutpatient clinicwithscoliosisdeformitysince4yearsago.Patientalsohadcardiovascularproblems.Atthetimeof visitation,patienthadamainthoracicCobbAngleof87.5◦andlumbarCobbAngleof76.7◦.
RESULT:Wedidaone-stepsurgicalcorrectionofscoliosis.Wemanagedtoacutelycorrectthescoliosis andmaintainthecorrectionbyusingaposteriorstabilization.Afterwardspatientwaswellconditioned andwasdischargedaround6dayslater.Thefollowupwasgood,patienthadnoneurologicaldeficits, andwasabletowalkwithoutwalkerafter1month.
DISCUSSION:MarfanSyndromewithscoliosisrequiresagoodpreoperativeplanningsothatwemayavoid unnecessarycomplications.Itisstillpossibletodoanacutecorrectionforscoliosisthatissevereandstill maintainlittletonocomplicationsrate.
©2020TheAuthor(s).PublishedbyElsevierLtdonbehalfofIJSPublishingGroupLtd.Thisisanopen accessarticleundertheCCBY-NC-NDlicense(http://creativecommons.org/licenses/by-nc-nd/4.0/).
1. Introduction
Marfan’ssyndromeisasystemicdisorderofconnectivetissue caused bymutationsin theextracellularmatrixproteinfibrillin 1. Manifestationof Marfan’s syndrome include proximal aortic aneurysm, dislocation of the ocular lens, and musculoskeletal abnormality.TheincidenceofclassicMarfan’ssyndromeisabout 2–3per10,000individuals.Arachnodactyly(overgrowthofthefin- gers)is generally asubjective finding.Thecombination of long fingersandloosejointsleadstothecharacteristicWalker-Murdoch and thesteinbergor thumbsign[1]. Theothermusculoskeletal abnormalitiesinMarfan’ssyndromeisscoliosis.Itaffectsaround 60%ofMarfan’ssyndromepatientsandtheremayberapidpro- gressionduringgrowthspurts,leadingtomarkeddeformity,pain, andrestrictedventilatorycondition[1].
Treatment ofscoliosis in Marfan’ssyndromepatientinclude operativeandnonoperative.Innon-operativetreatment,Milwau- keebraceisindicatedforpatientwithflexibleprogressivecurves between25and40degreesthathavenoassociatedthoraciclordo- sisandlumbarkyphosis[2].Cobbangleapproximately45ormore
∗ Correspondingauthor.
E-mailaddress:danarla.orthopaedic@yahoo.com(D.L.Akbar).
andcausessymptomandneedsurgicaltreatment.Butindications varywidelyaccordingtothepreferenceofthetreatingsurgeon.
Marfan’ssyndrome-associatedscoliosis,hasbeenreportedsatis- factory resultby posterior instrumentationalone [3]. Thiscase reporthadbeenreportedinlinewithSCAREcriteria[4].
2. Presentationofcase 2.1. Patientinformation
Wepresenteda15yearsoldgirlwithcurvedbacksince4years beforehospitaladmission. Atfirstthecurvaturewasnotsevere andpatientdidnotseekmedicalattention.Fouryearslater,the curvebecameworsened,andthepatientsoughtmedicalattention.
Shecomplaintofshortnessofbreath,backpainandfatigue.Patient couldn’tstandforalongperiod.Nohistoryofneurologicaldeficit, defecation,andurinalproblemwaspresent.
2.2. Clinicalfindings
PatienthadhighstatureandpositiveSteinbergandalsoWalker- murdochsigns.Acurvedbackwaspresentwithrightthoraciccurve andleftlumbarcurve,withribhumpandnostepoff.Therewasno tenderness.
https://doi.org/10.1016/j.ijscr.2020.09.166
2210-2612/©2020TheAuthor(s).PublishedbyElsevierLtdonbehalfofIJSPublishingGroupLtd.ThisisanopenaccessarticleundertheCCBY-NC-NDlicense(http://
creativecommons.org/licenses/by-nc-nd/4.0/).
Table1
PreoperativeRadiographicFindings.
Cobbangle UEV* LEV* Apex
Proximalthoracic 36.37◦ Thoracal1 Thoracal4 Thoracal3 Mainthoracic 87.5◦ Thoracal4 Thoracal11 Thoracal7
Lumbal 76.7◦ Thoracal11 Lumbar4 Lumbar2
Risser R4
*UEV:upperendvortex,LEV:lowerendvortex.
Fig.1.ClinicalManifestationofthePatient.
Fig.2. PreoperativeRadiogrpahicExamination.
2.3. Timeline
Time SymptomandSigns Treatment
4yearsbeforehospital admission
Curvedback.No findingsbecause patientdidnotseek medicalattention
Notreatment
1monthbefore hospitaladmission
Backpain,shortnessof breath,fatigue,could notstandforlong period,highstature, positiveSteinbergand Walker-murdochsigns, curvedback
One-stepsurgical correctionofscoliosis andposterior stabilization
2.4. Diagnosticassessment
Theforwardflexionwas0–60◦,extensionwas0–25◦,rightlat- eralbendingwas0–40◦ andleftlateralbendingwas0–40◦.The standingheightofthepatientwas162cmandthesittingheight was75.5cm.TheradiologicalparameterisshownonTable1.
Wediagnosedthepatienttohaveneuromuscularscoliosisasso- ciatedwithMarfan’ssyndrome(Figs.1and2).
Table2
PreoperativeandpostoperativecomparisonofCobb’sangle.
Pre-operative Post-operative Difference
Proximalthoracic 36.37◦ 8.2◦ 28.17◦
Mainthoracic 87.5◦ 72◦ 15.5◦(17.71%)
Lumbal 76.7◦ 110◦ 33.3◦
Table3
Preoperativeandpostoperativecomparisonofclinicalmanifestation.
Pre-operative Post-operative
StandingHeight 162cm 170cm
SittingHeight 75.5cm 114cm
2.5. Therapeuticintervention
Scoliosiscorrectionandposteriorstabilizationwasperformed tothepatient.Beforethesurgery,weconsultedtothepediatrician forcardiopulmonaryfunction.Thiswasthestepforperioperative preparation.Thesurgerywasperformedbythefirstauthor(SDALT).
Thesurgicaltechniqueconsistsof6steps,asshowninFig.3.Inthe firststep,theincisiondesignwasmade.Inthenextstep,afterlayer bylayerincision,thewholespinewasexposedandspinaldeformity couldbeseenclearly.Inthethirdstep,thepediclescrewswere insertedintothoracal2,3,6,7,8,11,12andlumbar4andlumbar 5.Thepedicleswerearound4.5–5.5mmindiameter.Cross-linkwas insertedatthelevelofL2.Facetectomyandreleaseofinterspinosus ligamentwasdonetofurtherfreethevertebralbodyinthefourth step.Inthefifthstep,rodwasplacedafterwards.Translationaland rotationalcorrectionwasdone.Inthelaststep,finalresultexposed.
Woundwasclosedlayerbylayertotheskin.Adrainwasapplied.
Intraoperativelythebloodlosswas1,600cc,withadditional tranfusionof400ccofpackedredcelland200ccoffreshfrozen plasma.Intra-operativecellsalvagewasusedfor200ccautotrans- fusion.
2.6. Followupandoutcomes
Afterthesurgery,thepatientwasevaluatedforthehemody- namicconditioninpediatricintensivecareunitfor1day.Three dayspost-operative,shewasabletostandonbothofherlegand walkedwiththehelpofassistedwalkingdevice.Amonthafter thesurgery,thepatientwasabletowalkwithoutassistedwalking deviceandhasnocomplaintofshortnessofbreath.
Fromthepost-operativex-ray,wecouldseeimprovementof theCobb’s angle(Table 2).The Proximal thoracic Cobb’s angle improvedfrom36.37◦to8.2◦(28.17◦ofimprovement).Themain thoracic Cobb’s angle wasimprovedfrom 87.5◦ to 72◦ (17.71%
improvement).(Fig.4).Thepostoperativecoronalbalanceisneu- tral,whereasthesagittalbalanceispositive(78.68mm).
Wecouldseetheimprovementalsointheclinicalcondition.
Thepatient’spre-operativestandingheightwas162cm,corrected to170cm. Hersittingheightwas75.5cm,correctedto114cm (Fig.5andTable3).
3. Discussion
Theclassic spinal deformities in Marfan’ssyndrome include increasedvertebralscalloping,ahigherprevalenceoflumbosacral transitionalvertebrae,lengthenedprocessdistanceandareduc- tionin pedicle width and laminar thickness.The prevalenceof ScoliosisinMarfan’ssyndromeis63%[2].Marfan’ssyndromeis amultisystemdisease.Themanifestationsareseenincardiovascu- larandmusculoskeletalsystem.Thepatientcomplainedshortness ofbreath,whichprobablymanifestedduetoherscoliosis.Afterthe
Fig.3. SurgicalTechniques.
Fig.4.PostoperativeRadiographicExamination.
correction,thecomplaintgraduallydiminished.Fewweeksafter surgery,nomoreshortnessofbreathwasobserved.Shecouldcon- tinueherdailyactivityasastudent[5].
Thecurvaturebetween20◦and40◦isrecommendedfortheuse Milwaukeebrace.Itneedsobservationevery3–4months.Ifthe progressionoccursandthecurveexceeds40degrees,itneedssur- gicaltreatment.Cardiopulmonaryproblemduetotheprogression ofthecurve,alsoneedssurgicalcorrection[6].Afterthesurgery thoraciccurveachieved72◦(17.71%)correction.Itisusefultoaim thecorrectiontogetaclinicallywell-balancedspineratherthan maximumintraoperativecorrection[5].
Idiopathicscoliosisisathree-dimensionaldeformityofthetorso consistingoflateralcurvatureofthespineandvertebralrotation.
SatisfactorytreatmentforAISincludesadequaterestorationofthe sagittalspinal alignment and vertebral rotation, and maximum correctioninthecoronalplane.TheC7plumblineisthemostcom- monlyusedindexofglobalbalance.Thisparameteridentifiedby measuringthepositionofaverticallineoriginatinginthecenter oftheC7vertebralbodywithrespecttotheposteriorsuperiorcor- nerofS1.ThisC7plumblinewasastable,reliableindexofsagittal balance,beingmaintainedinnarrowrangesforalignmentofthe spineoverthepelvisandfemoralheads[7].Thesagittalbalanceis
Fig.5. PostoperativeClinicalManifestation.
assessedbythehorizontaldistanceormisalignmentofavertical linepassingfromthecenterofC7vertebralbodytotheposterolat- eralpartoftheS1superiorendplate.Itwasconsideredpositivevs negativeasitpresentedananteriorvsposteriordeviationfromthe previouslystipulatedline.Toassesscoronalbalance,averticalline isdrawndownwardsfromthemidpointoftheC7vertebralbody.
Thehorizontaldistancebetweenthisplumblineandthemidline ofthesacrumorcentralsacralverticallineismeasuredandthe positionofthislineisthen namedpositive,neutralornegative, dependingonthedistanceanddirectionfromthemidline[7].The C7waschosenasareferencepointoverT1becauseofthevisibility onlateralradiographs.TheplumblinedroppedfromC7vertebra (C7PL)isideallylocatedattheposterioredgeofthesacralplateau, andthispositionisdeemedverystable,whiledisplacementinfront orbehindthispointshowsanunstablesituation[8].
Thegoalsofsurgeryinidiopathicscoliosisincludemaintaining awellbalancedspineincoronalandsagittalplanes,centeringthe fusionmassinthemidlineattheproximalanddistalaspectand havingthelowestinstrumentedvertebraeinanoptimalcoronal, sagittal,andaxialorientation[9].
Thespineisa complexstructurebalancedbymultipleforces thatimplementstructuralchangesinanattempttocompensate thesagittalandcoronalverticalaxis,sothatthehumanbeingmain- tainsasbalancedamovementaspossible.Sagittalbalancecanbe maintainedthroughthreemaincompensatorymechanisms,which mayoccurin thespine,pelvisand/orlowerlimb areas,includ- ingreductionofTK/hyperextensionofadjacentsegments,pelvis retroversion(increaseofPTandrotationofthepelvis),kneeflex- ionandankleextension.Hyperextensionoftheadjacentsegments isacommoncompensatorymechanisminretainingsagittalbal- ance,aspelvisretroversion,kneeflexionandankleextensionmay occursecondary tohyperextensionof theadjacentsegmentsof thesearetoorigidtoextendorreachtheirlimits.Thecoronalbal- ance doesnotcorrelatewiththeotherspinevariables, possibly duetothesmalldiscrepancyofresultsfoundinthemainpopu- lationwithidiopathicscoliosis.Thesagittalbalanceseemstobe muchmoreinfluencedbytheupperspine,specificallybythecer- vicalspineshapeandbythefirst5thoracicvertebrae.Idiopathic scoliosiscorrelateswithhypokyphosisandadecreaseincervical lordosis,twoparameterswithasignificantandnegativeinfluence onsagittalbalance,which consequentlydecreasesitsvalueina populationwithadolescentidiopaticscoliosis.AresearchbyPinto etal.didnotpresentastatisticallysignificantcorrelationbetween thesagittalbalanceandthelumbarlordosisorspinopelvicparam- eters.Thismaybebecausethereisnorelationshipatallbetween thesevariables[7].
Assessing globalsagittalbalancein patientswithscoliosisis extremelyimportant,especiallybeforesurgery,becauseitcanhelp
avoidcomplicationsof imbalance,theprogressionofdeformity, adjacentsegmentdisease,andpseudarthrosis.Abalancedposture isachievedwhenthespineandpelvisarealignedinawaythat provideshorizontalgazewithminimalenergyoutput[8].
Globalalignment(positiveSVA)oflessthan4cmisanideal alignment for reducing operative intervention procedures and postoperative pain and disability. SVA (sagittal vertical axis)- shouldbewithin46mm[10].Sagittalbalanceisaparameterthat isinfluencedbymultiplefactors.Infact,itiscloselyrelatedtothe cervicalshapeandtheupperthoracic.spine(fromT1toT5),which inturn,isinsymbiosiswiththeseverityofscolioticcurvature[7].
Thisis consideredwithinthetolerable rangefor health-related qualityoflifeoutcomes.However,aspatientsage,theyleanfor- wardandtolerateslightlymorepositive sagittalalignment. Our studyshowedsignificantimprovementinbothclinicalandradi- ologicaloutcomesparticularlyCobbangleofthepatient,showing thesurgeryissuccessful.Thefinalsagittalbalanceinthispatientis measuredaspositive,withthevalueofmorethannormal(78.68 mm).however,asmentionedbefore,thesagittalbalanceisinflu- encedbymultiplefactorsanditiscloselyrelatedtotheseverityof thescoliosisbeforecorrectiontakesplace.
4. Conclusion
Scoliosisin MarfanSyndromeis acommondeformity.Itcan causeshortnessofbreathWepresentaMarfan’ssyndromepatient withspinal manifestationthatwasunderwnentsurgicalcorrec- tionbyposteriorapproach.Theprocedureisimportanttoimprove thephysiologicaloutcomeforthepatient.Ourstudyshowedsig- nificantimprovementinbothclinicalandradiologicaloutcomes particularlyCobbangleofthepatient,showingthesurgeryissuc- cessful.Thefinal sagittalbalanceinthis patientismeasuredas positive,withthevalueofmorethannormal(78.68mm).however, asmentionedbefore,thesagittalbalanceisinfluencedbymultiple factorsanditiscloselyrelatedtotheseverityofthescoliosisbefore correctiontakesplace.
Patientperspective
Patientunderstandsaboutthegoalofthetreatmentgiven.
DeclarationofCompetingInterest
The authors certify that They have NO affiliations with or involvementinanyorganizationorentitywithanyfinancialinter- estor non-financial interest in the subject matteror materials discussedinthismanuscript.
Funding
The authors received no financial support for the research, authorship,and/orpublicationofthisarticle.
Ethicalapproval
Theethicalapprovalwasnotrequiredforthiscasereport.Itis notfirstinman.
Consent
Writteninformedconsentwasobtainedfromthepatientfor publicationofthiscasereportandaccompanyingimages.Acopy ofthewrittenconsentisavailableforreviewbytheEditor-in-Chief ofthisjournalonrequest.
Authorcontribution
SingkatDoharApulLumbanTobing:studyconcept,datacollec- tion,datainterpretation,andwritingthepaper,guarantor.
DanarLukmanAkbar:datacollection,datainterpretationand writingthepaper.
Registrationofresearchstudies N/A.
Guarantor None.
Provenanceandpeerreview
Notcommissioned,externallypeer-reviewed.
Acknowledgements
AuthorswouldliketogivetheirbiggestgratitudetotheDepart- mentofOrthopaedicandTraumatology,UniversitasIndonesiaand CiptoMangunkusumoHospitalformakingthiscasereportdeliv- erable.
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