OralScienceInternational10 (2013) 40–43
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Oral Science International
j o u r n al hom ep a g e :w w w . e l s e v i e r . c o m / l o c a t e / o s i
Case report
Radicular cyst in a patient with untreated Wiskott–Aldrich syndrome: A case report
Ryosuke Kita
∗, Mika Seto, Hiromasa Takahashi, Yumiko Sakamoto, Toshihiro Kikuta
DepartmentofOralandMaxillofacialSurgery,FacultyofMedicine,FukuokaUniversity,7-45-1Nanakuma,Jonan-ku,Fukuoka814-0180,Japan
a r t i c l e i n f o
Articlehistory:
Received19December2011 Receivedinrevisedform7May2012 Accepted9May2012
Keywords:
UntreatedWiskott–Aldrichsyndrome (WAS)
Whole-bodymanagement Invasivetreatment
Oralandmaxillofacialsurgery
a b s t r a c t
Wiskott–Aldrichsyndrome(WAS)isaconditionwithvariableexpression,whichcausespersistentthrom- bocytopeniaand,initscompleteform,alsocausessmallplateletsandhumoralimmunodeficiency.A 14-year-oldboy,diagnosedwithWASbutnevertreated,presentedwithsymptomsofheartandrenalfail- ure.Hisrightbuccalregionwasswollenandhisrightfirstmolarshowedacyst-likeimageondentalX-ray films.Theboy’ssymptomswereattributedtoaninfectedcyst,greatlyaggravatedbyWAS-relatedimmun- odeficiency.Theboywassedatedandtheaffectedtoothandcystwereenucleated.Invasivetreatment wassafelyachievedbypayingcloseattentiontowhole-bodymanagement.
Crown Copyright © 2012 Published by Elsevier Ltd on behalf of Japanese Stomatological Society.
All rights reserved.
1. Introduction
Wiskott–Aldrich syndrome (WAS) is a congenital X-linked immunodeficiencycharacterizedbyfrequentinfections,thrombo- cytopeniawithsmallplatelets,eczema,andanincreasedriskof autoimmunedisorders andmalignancies[1].Thesyndromewas namedafterRobertAndersonAldrich[2],anAmericanpediatri- cianwhodescribedthediseaseinafamily ofDutch–Americans in1954,andAlfredWiskott[3],aGermanpediatricianwhofirst noticedthesyndromein1937.Resultingfromthrombocytopenia, thefirstsignsofWASareusuallypetechiaeandbruising.In1994, WASwaslinkedtomutationsinageneontheshortarmofthe Xchromosome,encodingtheWASprotein[4].Thus,anattractive optionfortreatingWASisgenetherapy,whichleadstoacomplete cure.
UntreatedpatientswithtypicalWAShaveapoorprognosiswith infections,bleeding,lymphoproliferativedisorders,andmalignan- ciesbeing the mostcommon causesof death. The life span of atypicalpatientisquiteshort,withanexpectedmeansurvival time of 6.5 years from birth [5]. We report a 14-year-old boy with untreated WAS who underwent a successful mandibular ystectomy.
∗ Correspondingauthor.Tel.:+81928011011x3537;fax:+81928011044.
E-mailaddress:rkita@minf.med.fukuoka-u.ac.jp(R.Kita).
2. Casereport
A14-year-oldboywithseveresymptomsofcardiacandrenal failurewasbroughttotheemergencycenterofourhospitalinan ambulance.At4monthsofage,hehaddevelopedbloodplatelet degradationandhepatomegaly,andwasdiagnosedwithWAS.He frequentlydevelopedepistaxis,whichwasstoppedbyinsertinga 0.001%epinephrineplugintotheaffectednostril.Hisparentswere informedthatherequiredbonemarrowtransplantation,butthey refusedthistreatment.Thepatientexhibitedsomedelayofmen- taldevelopment,butdidnotmanifestanyneurologicalorphysical developmentalabnormalities.
When the patient arrived at the emergency room, his hemoglobinandhematocritlevelswereextremelylow(Table1).A chestradiographshowedbilateralpulmonaryedema(Fig.1)andan ultrasoundcardiogramshowedthattheventricularejectionfrac- tionwas40%.Alargeswellingwasobservedinhisrightbuccal regionandhisrightfirstmolarhadseverecaries;acyst-likeimage wasobservedintheapicalareaofthattooth(Fig.2a).Theboy’s symptomswereattributedtoaninfectedcyst,greatlyaggravated bytheimmunedeficiencycausedbyWAS.
After hospitalization, antibiotics were administered intra- venously and local irrigations with water and povidone-iodine wereperformed,regularly.Theboywasplacedonarenaldisease dietof1700kcal,containing30gofprotein,andhiswaterintake waslimited to 500mL/day. Hereceivedintravenous antibiotics andabloodtransfusion.Hisgeneralconditionimprovedgradually, andhewasmovedfromtheemergencyroomtoapediatricward (Fig.3).
1348-8643/$–seefrontmatter.Crown Copyright © 2012 Published by Elsevier Ltd on behalf of Japanese Stomatological Society. All rights reserved.
http://dx.doi.org/10.1016/S1348-8643(12)00048-1
R.Kitaetal./OralScienceInternational10 (2013) 40–43 41
Table1
Changesinperioperativelaboratoryvalues.
Daysof hospitalization
1(ER) 13(Pediatricward) 35(Preoperativeday) 36(Postplatelettransfusion) 37(POD1) 43(POD7) 56(POD24)
WBC 9.3 4.5 4 2.8 3.7 4.1 4.9
RBC 99 178 186 170 182 212 181
Hb 2.7 5.2 5.3 4.9 5.1 5.9 4.8
Plt 4.7 1 1.3 6.8 6.9 1.4 1.4
BUN 68 33 28 26 38 58
Cr 7.5 4.8 2.5 2.8 3.8 5.2
K 6.4 5.2 4 4.8 5.2 4.5
CRP 12 0.2 0.6 0.7 0.2 1.7
ER,emergencyroom;POD,postoperativeday;WBC,whitebloodcell(1000/L);RBC,redbloodcell(1000/L);Hb,hemoglobin(g/dL);Plt,platelet(10,000/L);BUN,blood ureanitrogen(mg/dL);Cr,creatinine(mg/dL);K,potassium(meq/L);CRP:C-reactiveprotein(mg/dL).
Acystectomywasnecessarytoeliminatethecauseofthelocal inflammation,butitwasimpossiblebecauseoftherenalfailure andparents’refusaltoallowinitiationofdialysis.Underhospital control,thepatient’srenalfunctionwasgraduallyimprovedwith therestricteddiet,limitedwaterintake(700mL/day),andinter- naluseofsodiumpolystyrenesulfonate.Afterthepatient’sgeneral conditionimproved,acystectomywasplannedforDay36,post- hospitalization.
Intravenous administration of cefotaxime (1.0g/day) was started6daysbeforetheoperationandwaschangedtointravenous administrationofsulbactam/ampicillin(1.5g/day),beginningon thefinal preoperativeday.Thepatientreceiveda200mLtrans- fusion of blood platelets 2 days prior to surgery and again immediatelybeforesurgery.Immediatelybeforetheoperation,the patient’shemoglobinvaluewas4.9g/dL,andhisplateletcountwas 68,000/L(Table1).
The affected tooth and cyst were enucleated after inducing deep,intravenoussedation(propofolandmidazolam)andapply- ing a local anesthesia (3% mepivacaine without epinephrine).
Standardintraoperativemonitoringinvolvedelectrocardiography, non-invasive blood pressure monitoring,and measurements of theheartrateandoxygensaturation.Supplementaloxygenwas administered with a nasalcannula. For sedation, a bolus dose
Fig.1. ChestX-rayfindings.Therewasasignificantfindingofcardiomegalyand bilateralpulmonaryedema.
of10mgpropofolwasadministeredintravenously.Sedationwas maintainedbyadministeringacontinuousinfusionof2mg/kg/h propofol,whichwasaimedatachievingtheObserver’sAssessment ofAlertness/Sedationscaleof10–12/20.Inthiscase,weadminis- tered1mgmidazolamwhenbodymovementsoccurred;thiswas followedbyadministrationof4mg/kg/hpropofol.Thetotalamount ofpropofolandmidazolamadministeredwas138mg and1mg, respectively.First,3.6mLoflocalanestheticwasusedandanaddi- tional1.8mLwasadministeredduringcurettage.The operation wascompletedsafelyandwithoutanycomplications;thesurgical timewas50min,andthedurationofsedationwas70min(Fig.2b).
Post-surgically,thewoundwaskeptopenwithanatelocollagen sheetinthewoundedareaandpackedwithgauze(Fig.4a);aplas- ticprotectivecoverwasalsokeptinplacefor2weeks.Theblood clotundertheplasticprotectivecoverwasweak(Fig.4b),butno defluviumoftheclotorpostoperativebleedingoccurred.
Thepostoperativecourseoftheoralwoundwasgood(Fig.4c andd),withoutthedevelopmentofanygingivalnecrosis.Onthe ninthpostoperativeday,abacterialinfectionoccurredinaleftankle arthrosis,andantibioticswereadministered(Fig.3).Thepatient wasdischarged24daysaftertheoperationwithanepithelialized woundregion(Fig.4eandf).
3. Discussion
Thepatientexhibitedarangeofsymptoms,includingincreased susceptibilitytoinfection,renalinsufficiency,abnormalhemostasis duetothrombopenia,localnecrosiscausedbyanemia,andnonco- operationduetointellectualdisability.Itwasalsonecessarytolimit thepatient’swaterintakeandmaintainstrictdietaryrestrictions inordertocorrectelectrolyteimbalancesandpreventaggravation ofrenaldysfunction.Thesechallengeswarrantedare-evaluationof theproceduresthatmightbeusedmoreroutinelytotreatsimilar conditionsinotherpatients.
Thethresholdforprophylacticplatelettransfusionforaninva- siveprocedureisabloodplateletcountof50,000/Lorless.Ifa patienthasabloodplateletcountof10,000–20,000/L,anopera- tionsuchasatoothextractioncannormallybeperformedsafely withlocal hemostasis.This patientseemed toexperience epis- taxiswhenhisplateletcountsfellbelow15,000/L.Inthiscase, thepatientreceivedpreoperativeplatelettransfusionstoprevent bleedingandpostoperativedevelopmentofanemia.
Most localanesthetics have inherent vasodilating effects. In thecaseoflocalanestheticsinjectedintothehighlyvascularoral tissues, an adequate effect is not obtained due to rapid diffu- sion.Vasoconstrictors,mixedwithlocalanesthetics,areusedto increasethedurationoflocalanesthesiabyconstrictingtheblood vessels, thus makingit safeto usethe anestheticagent for an extended durationand reducing theriskof hemorrhage[6,7,8].
Bothepinephrineandfelypressinareusedasvasoconstrictorsfor theoralarea,inJapan,andbothmayinducenecrosiswhenused
42 R.Kitaetal./OralScienceInternational10 (2013) 40–43
Fig.2. PanoramicX-rayfindings.Acyst-likeimageisobservedintheapicalareaoftherightfirstmolar.
Fig.3. Summaryofthetherapeuticprocedure.Weadministeredtheantimicrobialagentsandperformedtransfusionappropriately.ER,emergencyroom;PIPC/TAZ, piperacillin/tazobactam;CTX,cefataxime;SBT/ABPC,sulbactam/ampicillin;MINO,minocycline.
inanemictissues.Mepivacainehydrochlorideisanamide-typeof localanestheticthathasareasonablyrapidonsetandamedium durationofaction.Becausemepivacainedoesnothaveavasodi- latingeffect,theadditionofavasoconstrictorisunnecessary.For thesereasons,mepivacainewasusedasthelocalanesthetic,which helpedtominimizetheriskofdelayedwoundhealingduetolocal anemia.
Thepatient wasuncooperative while undergoing treatment, refusingtoopenhismoutheven forthedaily, localirrigations.
Generalanesthesiawasconsideredtobeahighrisk,basedonthe
evaluationofhisgeneralcondition.Therefore,intravenousseda- tionwasperformedtoavoidunduecardiacstressandtofacilitate patientcooperation.Propofolisthesedativeofchoiceforthesepro- ceduresbecauseitismetabolizedmainlybytheliver[5,6],thereby reducingtheburdenonthepatient’skidneys.Nosideeffects,such asrespiratory depression,vomiting,orexcessivesedation,were observed.
Thus,usingacombination ofprocedures,mandibularcystec- tomy was successfully performed in a patient with untreated WAS.
Fig.4.Photographofthepostoperativecourse.(a)Immediatelyaftersurgery.Thewoundwaskeptopenandpackedwithgauze.(b)Postoperativefirstweek.Thebloodclot undertheplasticprotectivecoverwasweak.(c)Postoperativesecondweek.Thewoundwaspackedwithgauzefor2weeks.(d)Postoperative17thday.Werecognizedan epithelizationtendency.(e)Periodofdischarge.Werecognizedepithelization.(f)Onemonthafterthesurgery.Wecanseewoundhealing.
R.Kitaetal./OralScienceInternational10 (2013) 40–43 43
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