clinical reasoning refractory status epilepticus in a primigravida hang shi资料.pdf

该【clinical reasoning refractory status epilepticus in a primigravida hang shi资料 】是由【dt83088549】上传分享，文档一共【6】页，该文档可以免费在线阅读，需要了解更多关于【clinical reasoning refractory status epilepticus in a primigravida hang shi资料 】的内容，可以使用淘豆网的站内搜索功能，选择自己适合的文档，以下文字是截取该文章内的部分文字，如需要获得完整电子版，请下载此文档到您的设备，方便您编辑和打印。RESIDENT&FELLOWSECTIONClinicalReasoning:RefractorystatusepilepticusinaprimigravidaHangShi,MD,GennaWaldman,MD,StevenTobochnik,MD,Sheng-HanKuo,MD,andAlisonPack,;92:968-:?******@-year-oldwoman,gravida1para0,14weekspregnant,presentedwith?,shereportedanewmildbifrontalheadacheandvisualchangesdescribedasdi?cultyseeingherright?,followedbyshakinginbilateralarmsandlegsfor2minutes,,myoclonus,andfootnumbnessdiagnosed4yearspriorassensoryataxicneuropathy,dysarthria,andophthalmoplegia(SANDO)syndrome;wholeexomesequencingpoundheterozygouspolymerasegamma(POLG),coenzymeQ10100mgBID,andprenatalmulti-,thepatient’,end-gazenystagmusinalldirections,milddysarthria,intermittentmyoclonicjerks,dysmetriainallextremities,decreasedsensationbelowtheknees,andwide-:’sacutepresentation??erentialdiagnosis?GOTOSECTION2FromtheDivisionofMovementDisorders(S.-.)prehensiveEpilepsyCenter(.),DepartmentofNeurology(.,.,.),ColumbiaUniversityMedicalCenter,NewYork,NY./,ifany,?2019AmericanAcademyofNeurologyCopyright?,andduralvenoussinusthrom--sidedfrominfectious,autoimmune,orparaneoplasticprocesses,postchiasmaticlesion,-spectrumdiseasestheleftmotorcortex,-,?erentialforheadache,visualchanges,OurpatientunderwentMRI/,ursaftercontrast,ipital20weeksgestationwithassociatedhypertensionorpro-cortexwithcorrespondingT2/?uid-attenuatedinversionre-(FLAIR)hyperintensityandminimaledema(?gure,encephalopathysyndrome(PRES),reversiblecerebralva-A).Givennewseizurewitharadiographiclesion,levetir-soconstrictionsyndrome,ischemic/hemorrhagicstroke,,ictalEEG,andquantitativeEEG(A)Axialfluid-ipitalcorticalconvexity.(B)Representativeelectro-graphicseizurewithleftparieto-occipitalonset.(C)QuantitativetrendanalysisusingPersyst13(PersystDevelopmentCorp.,SolanaBeach,CA)withartifactreductionoveracontinuous93-minutesEEGsegmentrevealsincreasinglyfrequentseizuredetections(panel2,pink;panel3,red),stronglylateralizedtothelefthemisphere(fast-Fouriertransform[FFT]spectrogrampanel9vs10;amplitude-integratedEEG[aEEG]panel12).Rhythmicityspectrogramofthelefthemisphere(panel7)demonstratesearlypeaksinhighalphaandbetapowerfollowedbyincreaseindeltapower,withstereotypedseizuremorphology./NNeurology|Volume92,Number20|May14,2019969Copyright?-remainedalteredandhad2moreseizuresofsimilarsemi-in?(SE)with2seizureswithoutreturntobaselineThenextday,thepatientdevelopeddi?cultyfollowinginbetween,,wherecontinuousEEGrevealednonconvulsiveipitallobeipitalandleftfrontallobe,withoutre-(?gure,B).-ifestingasrightheadversion,rightwardeyedeviation,andQuestionsforconsideration:bilateraltonic-’sSE??ectIVlorazepam2mgandIVlevetiracetam2,000mg,shethetreatmentofthepatient’sSE?GOTOSECTION3970Neurology|Volume92,Number20|May14,/NCopyright?,IVmethyl-prednisolone1,000mgdailyfor3days,IVL-arginine30mgBasedonthepatient’sknownPOLGmutation,rapidlydaily,levocarnitine990mgBID,,andfocalWhenAEDswereweaned,frequentseizuresreturned,SE,shewasdiagnosedwithPOLG--ipitallobeseizures,focal3motorseizures,,sometimeswithrestricteddi?usion,ipitalcortex,althoughotherareasofcortex,thalami,POLGgeneencodesDNApolymerasegamma,,,-MRIshowingcorticalrestricteddi?usionratherthanpre-somaldominantandautosomalrecessivepatternsofin-dominantlywhitematterabnormalities,,withawidearrayofsymptomsPOLG-relatedepilepsy,EEGtypicallyshowsictalandinter-,3andcanincludehypotonia,developmentaldelay,myoclonus,epilepsy,demonstrateposteriorrhythmichigh-amplitudedeltawithmigraines,stroke-likeepisodes,neuropathies,ataxia,psychi-superimposedpolyspikes(RHADS),whichispathogno-atricillnesses,diabetes,liverdysfunction,andcardiomyopa-monicforAlperssyndrome(POLG-relatedchildhoodpro--relatedSEgressiveencephalopathywithintractableepilepsyandliverandAlperssyndrome,whichoftenstartinchildhoodbutcanfailure).4ByInternationalLeagueAgainstEpilepsyclassi?-,cation,shehadacutesymptomaticprogressiveSEduetowithwhichthispatienthadbeendiagnosedpreviously,aswellPOLG;ipitalseizureswithleftasmyoclonicepilepsymyopathysensoryataxia,ataxianeu-parietal-occipitalRHADS(?gure,C).ropathyspectrum,-relatedSEinpregnancyisnotwell-POLG-,SEinpregnancyshouldbetreatedwithenergydepletioninmetabolicallyactiveneuronswithdys-antiepilepticdrugs(AEDs)and,ifnecessary,,7Alterationsinneuronalexcitabil-continuousinfusiontherapy,,thuscausinginjuryoftenrequiredtocontrolseizuresinPOLG-,typicalcorticalchangesduetothesemetabolicprocessesandalthoughnewerAEDssuchaslevetiracetam,lacosamide,seizureepiphenomena,whicharebothgenerallyreversiblelamotrigine,,4a?,itisimportanttoconsiderthepotentialadversee?ectsofAEDtherapyontheIntheabsenceofpriorseizures,familyhistory,?rsttrimesterfactorsasidefromPOLGmutation,itisunknownwhyourandthereforebeyondtheperiodofhighestconcernforter-,butAEDsinlatertrimesterscanstilla?ectcog-,whichcanmanifestashepatotox-corticalneurons,,icity,leadingtoliverfailureanddeath,3andinuteroexposurethereisnotawell-characterizedassociationbetweenmito-hasnegativee?ectsonneuraltube,craniofacial,cardiac,chondrialdisordersandthedevelopmentofnewseizuresskeletal,,poundhetero-e?ectiveinrefractoryPOLG--dosezygousmutations,apaternallyinheritedmissensevariantsteroids,L-arginine,andsupplementsusedinthetreatmentof()and2maternallyinheritedmissensevariantsothermitochondrialdisordersareofuncleare?cacyinpresentincis(;Arg852Cys),likelyheightenedherPOLG-,lowriskforepilepsysincethematernalvariantshavebeendescribedglycemicindexdiet,andtranscranialdirectcurrentstimula-inpatientswithepilepsy,poundheterozygousmuta-tionintreatingPOLG-relatedepilepsywithvariableim-,9Giventhetheoreticalriskofincreasingmetabolicdemandaspregnancycontinues,Ourpatient’sSEwasdi?culttocontrolandrequiredcon-extensiveconversationswereheldwiththepatient,family,andtinuousIVmidazolamandketamine,aswellaslacosamide,,phenytoin,,discussionsweanedo?|Volume92,Number20|May14,2019971Copyright?,./-up3monthslater,despitecontinuing4ReferencesAEDs,thepatienthadonepossibleseizuredescribedastran-,:etiology,management,;76:114–?-,ChinneryPF,-[].In:AdamMP,ArdingerHH,PagonRA,etal,?[].Seattle:UniversityofWashington;1993–:/books/NBK26471/.AccessedNovember6,,QuaegebeurA,VanGoethemG,;116:17–,RahmanS,SchmittB,’AuthorcontributionsdiseasecausedbyPOLG1mutations:;50:1596–:primarypatientcare,draftingofmanuscript,:howmuchareweendangeringtheembryoandrevisionofthemanuscript,:fetus?ReprodToxicol2009;28:1–,BraunKP,LeijtenFS,vanNieuwenhuizenO,WokkeJH,vandenBerghprimarypatientcare,criticalrevisionofthemanuscript,lit-:criticalrevisionofthemanu-POLG1-;258:218–,NgYS,TaylorRW,,.-:primarypatientcare,mitochondrialpolymerasegamma(POLG)gene::;57:1531–,ElsharkawiI,ClappMA,?ectsofmitochondrialdisease/manuscript,:,O’Rourke