RevBrasAnestesiol.2020;70(1):51---54
CASE REPORTS
Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report
Viviane Barrada Ribeiro, Leonardo Teixeira Ribeiro Alonso de Faria, Roberta de Lima Machado, Bruno Mendonc ¸a Barcellos,
Marco Antonio Cardoso de Resende, Rogério Luiz da Rocha Videira
∗UniversidadeFederalFluminense(UFF),HospitalUniversitárioAntônioPedro,Niterói,RJ,Brazil
Received27February2019;accepted26October2019 Availableonline12February2020
KEYWORDS Cockaynesyndrome;
Difficultairway;
Obstericanesthesia;
Pregnancy;
Progeria
Abstract Cockaynesyndromeisanautosomalrecessivemulti-systemicdisorderduetoDNA repairfailure.Itwasoriginallydescribedin1936inchildrenofsmallstature,retinalatrophy anddeafness,characterizedbydwarfism,cachexia,photosensitivity,prematureagingandneu- rologicdeficits.The mosttypicalfeatureisdescribedasbirdlikefacies: protrudingmaxilla, faciallipoatrophy,sunken eyes,largeearsandthinnose.Difficult airwaymanagementwith subglotticstenosisandriskofgastriccontentaspirationhasbeendescribed.Althoughtheclin- icalcharacteristicsofCockaynesyndromehavebeenwelldescribedinpediatricpublications, thereisonlyonereportintheliteratureonanesthesiaforanobstetricpatient.Wereportthe caseofapregnantpatientdiagnosedwithCockaynesyndrome,submittedsuccessfullytospinal anesthesiaforacesareansectionduetocephalopelvicdisproportion.Inviewofthedifficult decisionbetweeninducinggeneralanesthesiainapatientwithalikelydifficultairway,orneu- raxialanesthesiainapatientwithcardiovascular,respiratoryandneurocognitivelimitations, wesuggesttailoredmanagementtoreachthebestresultsforthemotherandnewborn.
©2020Publishedby ElsevierEditoraLtda.onbehalfofSociedadeBrasileiradeAnestesiolo- gia. Thisisanopenaccess articleundertheCCBY-NC-NDlicense(http://creativecommons.
org/licenses/by-nc-nd/4.0/).
PALAVRAS-CHAVE Síndromede Cockayne;
Viaaéreadifícil;
Anestesiaobstétrica;
Gravidez;
Progeria
AnestesiaparacesáreaemgestantecomsíndromedeCockayne:relatodecaso
Resumo AsíndromedeCockayneédoenc¸amultissistêmicaautossômicarecessivadevidoà falhanoreparodoDNA.Originalmentedescritaem1936emcrianc¸asdebaixaestatura,atrofia retinianaesurdez,écaracterizadapornanismo,caquexia,fotossensibilidade,envelhecimento aceleradoedéficitsneurológicos.Omaistípicoéafácies,descritacomosimilaràdeumpássaro:
maxilaproeminente,atrofiadocoximadiposobucal,olhosprofundos,orelhasgrandesenariz
∗Correspondingauthor.
E-mail:videirarogerio@id.uff.br(R.L.Videira).
https://doi.org/10.1016/j.bjane.2020.02.006
©2020PublishedbyElsevierEditoraLtda.onbehalfofSociedadeBrasileiradeAnestesiologia.ThisisanopenaccessarticleundertheCC BY-NC-NDlicense(http://creativecommons.org/licenses/by-nc-nd/4.0/).
52 V.B.Ribeiroetal.
fino.Temsidodescritadificuldadenomanejodaviaaéreacomestreitamentosubglóticoerisco deaspirac¸ãogástrica.EmboraascaracterísticasclínicasdasíndromedeCockaynesejambem relatadasempublicac¸õespediátricas,háapenasumrelatodeanestesiaempacienteobstétrica naliteratura.RelatamosocasodegestantecomdiagnósticodesíndromedeCockayne,sub- metida comsucesso a raquianestesia para partocesariano pordesproporc¸ão cefalopélvica.
Diantedadifícildecisãoentreinduziranestesiageralempacientecomprovávelviaaéreadifícil ouanestesianeuroaxial,emmeioalimitac¸õescardiovasculares,respiratóriaseneurocognitivas dapaciente,condutaindividualizadaésugeridaparaalcanc¸arosmelhoresresultadosparaa gestanteeoneonato.
©2020PublicadoporElsevierEditoraLtda.emnomedaSociedadeBrasileiradeAnestesiolo- gia. Este?um artigo Open Access sob alicen?ade CC BY-NC-ND(http://creativecommons.
org/licenses/by-nc-nd/4.0/).
Background
Cockayne syndrome (CS) is an autosomalrecessive multi- systemic disorder associated with a DNA repair defect.
Originally described in 1936 in children presenting small stature,retinalatrophyanddeafness,CSischaracterizedby dwarfism,cachexia,photosensitivity,prematureagingand neurologicdeficits.1Some features,suchasmicrocephaly, gradualdevelopmentofcerebellarataxia,choreoathetosis, andintellectual deficitcanbeassociatedwithsensorineu- ralhearingimpairmentandblindness,andwithintracranial calcification of the basal ganglia. The typical feature is thebirdlike facies: protruding maxilla, faciallipoatrophy, sunkeneyes,large earsand thinnose.Additionally, possi- bledifficultairwaymanagementisdescribedwithsubglottic stenosis and risk of gastric contentaspiration.2 The esti- matedincidenceis2.7per1,000,000birthsintheWestern Europepopulation.3
AlthoughtheclinicalfeaturesofCShavebeendescribed in publications in pediatric literature, there is only one case report published describing the anesthetic care of an obstetric patient.2 We report the anesthetic manage- mentofapregnantpatientdiagnosedwithCSsinceinfancy, andsubmittedtospinal anesthesiafor aC-section due to cephalopelvicdisproportion.
Case report
The case was a 26 year old, 39 kg, 150 cm height nulli- parapatient witha diagnosis of Cockayne Syndrome (CS) admittedin labor at the gestational ageof 39 weeks. An emergencyC-sectionwasindicatedduetocephalopelvicdis- proportion(Fig.1).DiagnosisofCSwasconfirmedbygenetic tests, in addition to a fibroblast culture test that mea- suresdecreased RNAsynthesisresponseafterUV-radiation exposure.The physical examinationshoweddistinctive CS features: short stature, cachexia, mildly retracted chin withbirdlikefacies,difficultinteractionduetointellectual deficit, and hearing aid due to hearing loss (Fig. 2). Air- wayassessmentrevealedsmallmouthopening,protuberant teethandMallampatiscoreClassIV(Fig.3).Attheoperation theater,an 18Gvenouscannulawasinstated,andcontin- uous ECG (DII and V5), non-invasive blood pressure, and
Fig. 1 39 weekpregnantpatient withCockayne syndrome.
Manifestshortstatureandcachexia.
AnesthesiaforacesareansectiononapregnantpatientwithCockaynesyndrome:casereport 53
Fig.2 Bird-likefacies.Probablechallengingairwaymanage- ment.
Fig.3 MallampatiClassIVscoreairwayassessment.
oximetry (SpO2) monitoring was employed. Pre-induction vital signswere arterial blood pressure of 140/80 mmHg, heart rateof 110 bpmwithsinus heart rhythm, andSpO2
of98% atroomair.The patientwaspositionedin leftlat- eraldecubitus,andafterskinpreparationandundersterile conditions, a L3---L4 spinal paramedian anesthesia with a 25 GQuincke needleand intrathecal injectionof 8mgof 0.5%hyperbaricbupivacaineand40gofmorphinewasper- formed.After10minutes,T4analgesialevelwasobserved by the pin prick test associated with satisfactory motor blockage,allowing thesurgical incision.Six minuteslater, a3,475gbabyboy wasdeliveredwitha9/9Apgar score.
Duringthe65minuteprocedurethepatientreceived10mg of ephedrine IV,1 L of Ringer Lactatesolution and an IV infusionof10Uofoxytocinduringthe30minutesfollowing birth.Themotherwassentfromthepostanesthesiarecov- eryroomtothefloorafter60minuteswithcompletemotor blockagerecovery.Therewasnomaternal complicationin the post-partum period.The morphinedose administered proved to be safe and satisfactory. Due to the patient‘s intellectual deficit, her brother signed the consent form for the publication of the case report andto use patient images.
Discussion
Thiscasereportdescribesanuncommonanestheticmana- gementofanobstetricpatientpresentingararesyndrome, lowlifeexpectancyandlowfertilityrate.CSisassociated with mutations of two genes: ‘‘CS-A’’, or Excision- ReparationCross-ComplementationGroup8(ERCC8),‘‘CS- B’’,orExcision-ReparationCross-ComplementationGroup6 (ERCC6),locatedatchromosomes5q12and10q11,respec- tively. Both genes encode proteins that interact with componentsof the transcription mechanism and proteins thatperform excision and repairof abnormal nucleosides detected in the DNA when transcription to RNA is inter- rupted. The majority of cases (80%) are associated with mutationsintheCS-Bgene.4
The wide phenotypicspectrum of signs and symptoms expressedbyCSpatientsisthebasisforthefollowingclas- sification:CSTypeI(Moderate)isconsideredastheclassic syndrome type, with signs of psychomotor development delayfromthesecondyearofage.CSTypeII(Severe)shows earlyonsetandclinicalsignsdevelopingafewmonthsafter birth.Patientshavefastprogressingabnormalities,andthe prognosisisverypoor,leadingtoprematuredeath.4Onthe otherhand,CSTypeIII(MildorAtypical)isdiagnosedlaterin childhoodandpatientspresentmildclinicalcharacteristics, normalintellectualdevelopment,growthandreproductive function.Nocorrelationhasbeenshownbetweengenotype andphenotypeinCS. Nospecifictreatment hasbeenpro- posedforCS,onlysymptomatictreatmentisavailable,and fewCSpatientsreachadulthood.3
CS female patients present underdeveloped secondary sexualcharacteristics, althoughsome maypresentmenar- che with irregular menstrual cycles. It is unclear if the infertilityassociatedwithCS onlyhas an endocrinal basis oris alsodue tothecognitive andneurologic dysfunction causedby thesyndrome.2 Digestivechanges, suchasgas- troesophagealreflux, vomitingand chokingcontribute to theanorexiaoftenobservedinCScachecticpatients.3Clin- icalfindings ofCSareaccompanied byco-morbiditiesand limitationstopregnancy.Atthepreoperativeassessmentof CSpatientssomeclinicalconditionsrelatedtoearlyaging, such as high blood pressure, renal and hepatic dysfunc- tion,progressivecataract,diabetesmellitusandmyocardial ischemiacanbefound.4,5
Regarding anesthetic management, a small mouth associatedwithnormallydeveloped,andtherefore dispro- portionallylargeteetharepredictorsofdifficultairway.The
¨birdlike¨faciesischaracterizedbythelossoftheoraladipose pad,enophthalmos,thinnose,inadditiontomicrocephaly.
Somepatientsalsopresentsmallmouthopeningduetotem- poromandibular joint dysfunction and some may present subglotticstenosis.1CSpatientsfrequentlyrequiregeneral anesthesiafor management of their associated disorders, andtheirfacialfeaturescanmaketrachealintubationchal- lenging.
Despitereadilyavailabledevices(masks,bougie,Magill’s forceps,video laryngoscopeandsmallerdiametertracheal tubeswithstylets)forapossibledifficultventilationortra- cheal intubation, neuraxial blockade was chosen, as the patient’sbackanatomypresentednoabnormalities,suchas scoliosiswhichiscommonlyobservedinsomephenotypes.
54 V.B.Ribeiroetal.
Infaceofthisclinicalscenario,spinalanesthesiawasbene- ficialforourpatient.Facingthedilemmaofeitherinducing generalanesthesiainthepresenceofaprobablechallenging airwaymanagement,orperforminganeuraxialblockadein apatientwithpossiblehemodynamic,respiratoryandneu- rocognitive limitations, we suggest that the decision of a tailoredanesthesiatechniqueshouldbemadetargetingthe bestresults,andtoenableearlyinteractionbetweenmother andnewborn.
Conflicts of interest
Theauthorsdeclarenoconflictsofinterest.
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