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NeurologicPresentationofWhippleDisease:Reportof12CasesandReviewoftheLiterature
WhipplediseaseisararemultisystemicinfectiousdiseasecausedbyTropherymawhippelii.Thisbacteriaisprobablyacommensalorganismofthegastrointestinaltractbutmaycauseinfectionifunderlyingimmunologicabnormalitiesarepresent,especiallyofmacrophages(6,30,34).Thediseaseismultifocalbutusuallyaffectsthegastrointestinaltract,andduodenalbiopsyremainsthestandarddiagnosticprocedure.T.whippeliicannotbeculturedbytraditionalmethods(38,39,46),sothediagnosisisbasedontypicalhistologiclesionsandidentificationofthecausativeorganismbypolymerasechainreaction(PCR).Thediseasecanbecuredwithprolongedantibiotictreatment.
InvolvementofthecentralnervoussystemisaclassicalfeatureofWhippledisease(20%–40%)(17,31,52)butclinicalsymptomsusuallydevelopinthelaterstageofthedisease.Neurologicinvolvementhasbeenreportedparticularlyinpatientswhopreviouslyreceivedantibiotictreatmentsthatcouldnotcrosstheblood-brainbarrier.WeconductedthepresentstudytodescribeneurologicaspectsofWhippledisease,basedontheanalysisof12originalcasesandareviewofthepublishedliterature.
Case1
Mrs.M.wasbornin1955.Hermedicalhistorybeganin1975,withthesuddenonsetoflefthemiparesissparingtheface.NeithersensitivitydisordersnorBabinskisignwasnoticed.Examinationoftheocularfunduswasnormal.Theerythrocytesedimentationrate(ESR)was11mm/h.Cerebrospinalfluid(CSF)wasnormal.Computedtomography(CT)ofthebrainshowedanexpansivelesionintheposteriorpartoftherightfrontallobe.Aneurosurgicalresectionofthetumorwasperformed.Thehistologicanalysisshowedanecroticlesionwithnoevidenceofmalignancybutwithinflammatorygranulomatoustissueinfiltratedbynumerouscells.ThemacrophagespresentedonlyafewperiodicacidSchiff(PAS)-positivegranules.InAugust1998,thepatientpresentedwithagitation,behaviordisorders,andconfusionassociatedwithclonicmovementsontherightsideanddecreasedbilateralvisualacuity.Physicalexaminationrevealedbilateraluppermotorneurondisorder.Biologicinvestigationsshowedahemoglobinof107g/LandanESRof25mm/h.ThebrainCTscanrevealedprominentedemaofthelefthemisphereassociatedwithahypodenselesionintheleftoccipitallobewithamasseffect(Figure1).ThepatientwastransferredtotheneurosurgerydepartmentinSeptember1998withtotaldementiawithmutism.Stereotacticbiopsyoftheleftoccipitallobewasperformed.Thehistologywassimilartothatobservedin1975.Thelesionsinvolvedbothwhiteandgraymatter,mimickingencephalitis.TherewerealsoassociatedperivascularandintraparenchymatousmacrophagesexhibitingPAS-positiveinclusionssuggestiveofWhippledisease(Figure2).AnalysisoftheCSFdidnotshowanycellwithPAS-positivecytoplasm.ThespecificsearchforT.whippeliiwithDNAextractionandspecificPCRcontrolledwithhybridizationintheCSFwasnegative.AttheendofOctober1998,becauseofdelirium,agastroscopywasperformed.Thegastroscopydidnotrevealanymacroscopicabnormality.Duodenalandjejunalbiopsieswerenormal.Treatmentwithtrimethoprim-sulfamethoxazole(TMP-SMX)320+1,600mg/dwasintroducedandsignificantneurologicimprovementwasnoticed.Thedeficitintherightpartofthebodydecreased,deliriumdisappeared,andthepatientwasabletotalkandperformdailyactivitiesagain.ACTscanofthebrainwasperformedforfollow-upinDecember1998:thehypodenseedematouslesionshadclearlyshrunk,especiallyintheleftpartofthebrain
Fig.1.CerebralCTscanwithcontrastmedium(Case1,September1998).ProminentedemainthelefthemispherewithoutdeepSylviantumorouslesion;leftSylvianfissureheterogeneousinappearance,associatedwithhypodenselesionintheleftoccipitallobewithamasseffectbutwithoutspecificcontrastenhancement.
Fig.2.CerebralCTscanwithcontrastmedium(Case1,October1999).Clearregressionofhypodenseedematouslesions,notablyontheleft.
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Whipple'sdiseasecausesweightloss,incompletebreakdownofcarbohydratesorfats,andmalfunctionsoftheimmunesystem.Whenrecognizedandtreated,Whipple'sdiseasecanusuallybecured.Untreated,thediseasemaybefatal....
A68-year-oldmanwasadmittedforwalkingdifficulties,memoryloss,andincontinencethathadbeenprogressingfor5months.For12years,hehadcomplainedofarthralgiasofthehandsandwrists.Thediagnosisofrheumatoidpolyarthritishadbeenmade.
Aneurologicexaminationrevealedatetrapyramidalsyndromeassociatedwithapathyandmemoryloss.Bloodtestsindicatedaninflammatorysyndromewithanelevationoftheerythrocytesedimentationrate(80mmatthefirsthour)andanincreaseofproteins.Theresultsofantinuclearantibody,HIV,BandChepatitis,latex,andWalerRosetestswerenegative.TheCSFtestshowedanincreaseintheproteinrate(1.95g/L)withanabsoluteincreaseofimmunoglobulinG(205mg/L),butthecellcountandglucoselevelwerenormal.PolymerasechainreactionforTropherymawhippeliiwasnegative.
MRimagesofthebrain(Fig1A–DandF)hadareasofT2hyperintensityintherightandleftmediobasaltemporallobe,anteriorcommissure,rightandleftmamillarybodies,leftcerebralpeduncle,rightmiddlecerebellarpeduncle,bulb,rightlobeofthecerebellum,andopticchiasm.Theselesionsshowednomasseffect.AfterIVinfusionofacontrastagent,mildenhancementoftherighttemporallesioncouldbeseen.MRimagingofthespinalcordwasalsoperformed,showingT2panmedullarycentralhyperintensity.
FIG1.Imagesfromthecaseofa68-year-oldmanwhowasadmittedforwalkingdifficulties,memoryloss,andincontinencethathadbeenprogressingfor5months.
A,AxialT2-weightedMRimage(4347/100/4)ofthebrainshowshyperintensityinthemediobasalpartoftherightandlefttemporallobes(arrows),inthemamillarybodies(star),andintheopticchiasm(arrowhead).
B,AxialT2-weightedfluid-attenuatedinversionrecoveryMRimage(11000/140/2[TR/TE/excitaitons])ofthebrainshowsdiffusehyperintensityinvolvingtherightmediobasalandleftmediotemporallobes(arrows),aswellasinvolvementoftheleftcerebralpeduncle(arrowhead).Notethelackofmasseffectdespitethesizeofthelesion.
C,Coronalfluid-attenuatedinversionrecoveryMRimage(11000/140/2)ofthebrainshowshyperintensityinthemediobasalpartofrightandlefttemporallobes(arrows),brainstem(star),andrightmiddlecerebellarpeduncle(arrowhead).
D,CoronalT1-weightedMRimage(535/14/2)ofthebrainshowsmildenhancementoftherighttemporallesionsaftertheIVadministrationofacontrastagent(arrow).
E,SagittalT2-weightedMRimage(2745/120/6)ofthespineshowshyperintensityinthecentralpartofthespinalcord(arrow).
F,CoronalT2-weightedfluid-attenuatedinversionrecoveryMRimage(11000/140/2)ofthebrain,obtainedafter1yearoftreatment,showsnearlycompleteresolutionoftherighttemporallesion(arrow).
Thepatientunderwentaduodenalbiopsy,whichshowedmacrophagesthatstainedpositivelywithperiodicacid-Schiffstain(Fig2).PolymerasechainreactionforTropherymawhippeliiwaspositiveontheduodenalbiopsy.
FIG2.Duodenalbiopsywasperformed.Notethecharacteristicfoamymacrophagescontainingperiodicacid-Schiffstain-positiverod-shapedstructuresinthesubmucosalregion
reviewof84casesdescribedintheliterature(4)revealedthatclinicallydetectableinvolvementoftheCNSrangesfrom6%to43%ofpatientssufferingfromWhippledisease.In43ofthe84reportedcases,CTorMRimagingoftheheadwasperformed,andin23,focalabnormalitieswerefound(4).
However,Dobbins(1)postulatesthatallpatientssufferingfromWhipplediseasehaveanatomic-pathologicCNSinvolvement(13).Itconsistsofmultiplesmallcircularorovallesions,measuringanaverageof2mmindiameter,disseminatedthroughoutthegraymatterandcharacterizedbytheaccumulationofmacrophages,stainingveryintenselywithperiodicacid-Schiffstain,asshowninpostmortemstudies.Electronmicroscopyshowsthatthemacrophagescontainabacilliformorganism,namedTropherymawhippeliibyRelmanetal(3),revealingthebacterialcauseofthedisease(2,6).Thesamelesionsarefoundinotherorganswhentheyareaffectedbythedisease(2,6).Recently,molecularbiologyallowedthedetectionofthepresenceofTropherymawhippeliiintheaffectedorgansbyusingpolymerasechainreaction(3).Previousstudieshaveshownagoodcorrelationbetweenpreferentialsitesofanatomic-pathologiclesionsandthelesionsrevealedbyMRimagingandCT(5,8,9,14).
ThefirstneuroradiologicdescriptionsofCNSinvolvementwerereportedasseenonCTscans(8,14),andtheypresentednospecificcharacteristics(2).TheCTscancanbenormal,regardlessoftheclinicalfeatures,orcanrevealfocalizedlesions,whichcanbehypo-orhyperdense,contrastenhancedornot,andwithorwithoutmasseffect(2).However,MRimaginghasproveditssuperiorityforthedetectionofsmalllesions(3).InareviewoftheliteraturepresentedbyLouisetal(4),43patientshadundergoneCTorMRimagingandthreepatientswithnormalCTfindingshadfocalabnormalitiesontheirMRimages(4).
Theselesions,whichoccurin53%ofthecases(4),oftenconsistofT1hypointensityandT2hyperintensity,shownomasseffect,andarelocatedinthemedialpartofthetemporallobes,inthehypothalamicregion,orinthepons(9,10).Theselesionsaresometimesenhancedafterinfusionofcontrastmedia(4,8,9,14).Moreover,associatedmoderateatrophyoccursin42%ofthecases(4).
Multiplemasslesionshaverarelybeendescribed.TheyusuallyappearhypointenseonT1-weightedimagesandhyperintenseonT2-weightedimagesandenhanceafterinfusionofcontrastmedia(12).However,asmallnumberofpatientshavenormal-appearingMRimages(4).
Theinvolvementofthespinalcordhasrarelybeenreported.WefoundonlyonereportofmyelopathysecondarytoWhippledisease,diagnosedbyusingMRimaging(11).Itwaslocatedinthecervicalregion,anditappearedhyperintenseonT2-weightedimagesafterIVinjectionofgadolinium.
Involvementoftheopticchiasmhasalsorarelybeenrevealedbyneuroradiologicexamination,althoughitismoreoftendiscoveredduringpostmortemstudies(9).WefoundonlyonereportwithanincreasedT2signalintensitylocatedintheoptictracts(9).However,clinicalopticalmanifestationsarecommonincasesofWhippledisease(4,5).
EarlytreatmentofWhipplediseaseleadstoimprovementofthelesionsrevealedbyneuroradiologicexamination(4,9,12),asshowninourcase,butdiagnosisisoftendifficult.Diagnosisisoftendifficulttodetermineonthebasisofpolymerasechainreactionorhistologicfindings(98%);moreprecisely,63%ofpatientsunderwentbiopsy(88%ofwhichwereobtainedfromthesmallbowel(4).Morerarely,thediagnosisismadebasedonlymphnodebiopsyorcerebralbiopsy.However,polymerasechainreactionhasshownsensitivityandspecificitytoconfirmadiagnosisofWhippledisease(15),andrecentstudieshaverevealedgeneticmaterialofTropherymawhippeliiinperipheralbloodmononuclearcellsandincellsofpleuraleffusion(16),suggestingthatthediagnosiscansometimesbemadeonthebasisofpolymerasechainreactionofperipheralblood(17).ThediagnosiscanalsobeobtainedbyconductingananalysisoftheCSFforperiodicacid-Schiffstain-positivecells(2),butthevalueofpolymerasechainreactioninCSFhasnotyetbeenevaluatedbecauseoftherarityofthedisease.
Treatmentisoftendelayed,however,resultingindeathorirreversiblecerebrallesions,suchasatrophy(9,13).Moreover,relapseofthediseaseisfrequent,leadingtothereappearanceoftheCNSlesionsonMRimages(4).
Inconclusion,thiscasereportshowstheimportanceofneuroradiologicexaminations,particularlyMRimaging,forthedetectionofCNSlesionsintheinitialevaluationofpatientssuspectedofhavingWhipplediseaseandforthelong-termfollow-upofthesepatients.ItisnecessarytoperformMRimagingofthebrainandspinalcordtoascertainthedifferentlocationsoftheselesions
InAugust1994,a65-year-oldwomanpresentedwitha2-monthhistoryofupperandlowerlimbparesthesiasand1-weekparaparesisandsphincterdysfunction.Onclinicalexamination,sensorymotormyelopathywithanuppercervicallevelwasconfirmed.
FIG1.August1994.Sagittalfastspin-echoT2-weighted(5000/112/2)(TR/TE/excitations)imageshowsenlargedandinhomogeneouslyhyperintensespinalcordfromthecervico-occipitaljunctiontotheupperdorsalregion(A).Sagittalspin-echoT1-weighted(460/17/2)imageswithgadopentatedimeglumineshowperiphericalenhancement(.Aftersevendaysofcorticosteroidtherapy,spinalcordenlargementhasdecreased(C).Eightmonthslater(April1995),thecordisnormal(D)
FIG2.November1995.SagittalT2-weighted(5000/112/2)imageshowsenlargedandinhomogeneouslyhyperintensespinalcordfromdistalcervicaltoupperthoraciccord(A).Onemonthlater,thecordisnormal
FIG3.May1997.Coronalfast-FLAIR(9002/137/2000)(TR/TE/TI)imageshowsnodularsignalhyperintensitywithslightmasseffectinleftmiddlecerebellarpeduncle.
January2000(5monthsafterstartofantibiotictherapy).Coronalfast-FLAIR(8802/105/2200)imagesshowregression:onlyslightsignalabnormalitiesinthestructurespreviouslyinvolved,andnonewlesions
March1998.Coronalfast-FLAIR(9002/137/2000)imagesshowpersistenceofthelesionsobservedpreviously(A),increasedinvolvementofmiddleandnewinvolvementofsuperiorrightcerebellarpeduncles
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