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The Diagnosis of Multiple Sclerosis

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The Diagnosis of Multiple Sclerosis TheThe DiagnosisDiagnosis OfOf MultipleMultiple SclerosisSclerosis DRDR SAHERSAHER HASHEMHASHEM PROFPROF OFOF NEUROLOGYNEUROLOGY CAIROCAIRO UNIVERSITYUNIVERSITY ThereThere isis nono pathpath gnomonicgnomonic oror perfectperfect laboratorylaboratory testtest whichwhich maymay bebe usedused inin isolationisolation toto reliablyreliably diagnosediagnose MS.MS. TheThe keykey toto correctcorrect diagnosisdiagnosis isis typicalitytypicality TheThe duckduck testtest isis importantimportant ,, (( isis thisthis aa duck,duck, itit lookslooks likelike aa duck,duck, walkwalk likelike andand quacksquacks likelike aa duck,duck, thenthen itit isis probablyprobably aa duck.duck. duck, and QuestionQuestion OneOne WhatWhat isis thethe mostmost commoncommon mistakemistake duringduring MSMS diagnosis?diagnosis? TheThe mostmost commoncommon mistakemistake duringduring MSMS diagnosisdiagnosis isis aa falsefalse positivepositive attributionattribution thatthat isis makingmaking aa diagnosisdiagnosis ofof MSMS inin patientspatients whowho dondon ’’tt havehave MS.OftenMS.Often thisthis errorerror isis thethe resultresult ofof uncriticaluncritical oror causalcausal reliancereliance onon MRIMRI withoutwithout appropriateappropriate clinicalclinical correlationcorrelation 6262 patientspatients assessedassessed byby generalgeneral neurologistsneurologists andand reassessedreassessed byby otherother generalgeneral neurologistsneurologists usingusing McMc DonaldDonald ’’ss criteriacriteria andand foundfound 51%51% ofof MSMS patientspatients werewere notnot confirmed.confirmed. McMc HughHugh etet alal MultipleMultiple sclerosissclerosis 2008,14:812008,14:81 --8585 TimeTime fromfrom initialinitial symptomsymptom toto MSMS diagnosisdiagnosis InitialInitial symptomsymptom TimeTime toto MSMS diagnosisdiagnosis 19801980 --19841984 77 yy 19851985 -- 19891989 5.35.3 yy 19901990 -- 19941994 3.73.7 yy 19951995 -- 19991999 1.8y1.8y >> 20002000 0.63y0.63y MarieMarie etet alal NeurologyNeurology 2005,65;10662005,65;1066 --10701070 QuestionQuestion 22 WhatWhat isis thethe definitiondefinition andand goldgold standardsstandards inin thethe diagnosisdiagnosis ofof MS.?MS.? 11-- EvidenceEvidence ofof disseminationdissemination inin spacespace (( multifocality).multifocality). 22-- EvidenceEvidence ofof disseminationdissemination inin timetime (( recurrentrecurrent attacksattacks oror steadysteady progression)progression) 33-- NoNo betterbetter explanationexplanation toto accountaccount forfor signssigns andand symptoms.symptoms. ClinicallyClinically isolatedisolated syndromessyndromes areare notnot MS.MS. ThisThis couldcould bebe opticoptic neuritis,myelitis,orneuritis,myelitis,or brainbrain stemstem dysfunctiondysfunction CISCIS isis notnot MSMS .this.this isis veryvery analogousanalogous toto firstfirst attackattack ofof convulsions.convulsions. CISCIS maymay oror maymay notnot evolveevolve toto MS.thisMS.this dependsdepends onon followfollow upup usingusing McMc Donald'sDonald's criteriacriteria (( paraclinicalparaclinical MRIMRI evidence).evidence). ACISACIS == AtypicalAtypical clinicallyclinically isolatedisolated syndromesyndrome LikeLike parasthesiasparasthesias oror clumsiness.clumsiness. SomeSome suggestedsuggested thethe useuse ofof earlyearly treatmenttreatment inin MSMS andand somesome typestypes ofof CISCIS FrahmanFrahman etet alal ArchArch .neurol..neurol. 20062006 ;; 614614 --618618 Question 3 What are the Mc Donald's criteria ? The first or ground floor ,without which the structure can ’t exist, is the clinical assessment (history,neurologic examination the goal of which is: 1-DIS (dissemination in space) 2-DIT ( dissemination in time ) 3-NBE ( no better explanation ) Schmacher et al Ann NY acad sci 1965 , 12:522 -568 Poser et al ,Neurosurg,2004; 106 : 147 -158. Mc Donalds et al, Ann Neurolog , 2001 ,50: 121 -127 Definition of MS attack according to Mc Donald's 2001: 1-Clinical event of type seen in MS. 2-Event lasts at least 24 hours. 3-Objective findings must be present. 4-The event shouldn ’t be pseudo attack (temporary worsening due to fever or infection) 5-The onset should be at least 40 days after onset of previous attack. 6- Single paroxysmal attack eg muscle spasm is not countable, but multiple paroxysmal events occurring over a period of 24 hours . AA patientpatient whowho presentedpresented withwith ONON ,experience,experience aa secondsecond attackattack oneone monthmonth later(DIT)later(DIT) withwith bilateralbilateral INOINO (DIS)(DIS) andand therethere areare nono atypicalatypical features(NBE)features(NBE) Revised (2005) Mc Donalds criteria for (DIS) and (DIT) A-DIS at least 3 of the following must be present 1 - At least one gadolinium enhancing lesion or nine T 2 hyperintense lesions. 2 -At least one infratentorial lesion 3-At least one juxta cotical 4 - At least 3 periventricular. NB one spinal lesion may be used to fulfill criteria 1+2.Spinal lesions at least 3 mm in size ,less than 2 vertebral segments occupying only part of the cross section of spinal cord .CSF oligoclonal bands and 2 typical MRI lesions can establish the diagnosis of MS DITDIT TheThe presencepresence ofof newnew lesionlesion (gadolinium(gadolinium enhanced)enhanced) notnot correspondingcorresponding toto sitesite implicatedimplicated withwith initialinitial eventevent ifif thethe scanscan donedone 33 monthsmonths afterafter thethe event.event. MRIMRI LesionsLesions similarsimilar toto MS.MS. 11--SLESLE 22 -- SJOGRENSJOGREN SS 33-- SARCOIDOSISSARCOIDOSIS 44 --ADEMADEM 55-- ANTIPHOSPHOLIPIDANTIPHOSPHOLIPID ANTIBODYANTIBODY SYNDSYND 66-- LEBERLEBER OPTICOPTIC ATROPHYATROPHY 77--CADASILCADASIL 88 --SUSACSUSAC SYNDROMESYNDROME 99 --USHERUSHER SYNDROMESYNDROME 1010 --VITVIT EE DEFICIENCYDEFICIENCY 1111 --LYMPHOMALYMPHOMA SUSACSUSAC SYNDROMESYNDROME Was first described in 1975 sufferers often experience personality changes and bizarre and develop paranoid behavior. Speech can be affected and many experience severe headaches and migraine. Some hearing and visual loss which might correct itself in a matter of 5 years. Diagnosis MRI multifocal supratentorial lesions most lesions are small ones 3 -7 mm which might affect grey matter and show meningeal enhancement which never found in MS NOR ADEM. Pathogenesis vasculitis,hypercoagulable,or viral infection .treatment hyperbaric o2 ,ivig,iv steroids usherusher syndromesyndrome IsIs aa leadingleading causecause ionion isis ofof deafdeaf blindnessblindness isis anan autosomalautosomal recessiverecessive conditioncondition .the.the visionvision isis describeddescribed asas doughnutdoughnut vilevile visionvision wherewhere centralcentral andand peripheralperipheral visionsvisions areare sparedspared whilewhile impairedimpaired inin anan annulusannulus aroundaround centralcentral vision.vision. ThreeThree typestypes werewere describeddescribed 1&21&2 areare bornborn withwith diseasedisease whilewhile 33 acquiredacquired lossloss ofof visionvision andand hearing.hearing. TreatmentTreatment genegene therapy.therapy. QuestionQuestion 44 WhatWhat areare thethe bestbest clinicalclinical keyskeys forfor MSMS diagnosis?diagnosis? AA-- TypicalTypical timetime coursecourse ofof anan attackattack ofof MS.UsuallyMS.Usually thethe attackattack takestakes aa gradualgradual progressiveprogressive coursecourse withwith peakpeak atat 33 --44 weeksweeks withwith gradualgradual declinedecline andand recoveryrecovery atat 66 weekweek differingdiffering fromfrom epilepsyepilepsy andand migrainemigraine attacksattacks whichwhich resolvesresolves inin 2424 hours.hours. BB--TypicalTypical historyhistory UsingUsing schumacherschumacher criteriacriteria 19651965 involvinginvolving DIT,DIS,andDIT,DIS,and NBE.NBE. CC-- RedRed flagsflags ThisThis meansmeans negativenegative criteriacriteria diagnosingdiagnosing NOTNOT MS.MS. 11-- NeurologicalNeurological redred flags.flags. 22-- GeneticGenetic redred flags.flags. 33-- PsychiatricPsychiatric redred flags.flags. 44-- MRIMRI redred flags.flags. 11-- NeurologicalNeurological redred flags.flags. Absence of eye signs like ON ,or INO Absence of clinical remission. Absence of sensory finding or bladder disturbance. Localized disease in one brain region. Absence of typical CSF changes Rudik RA; et al Arch Neurology 1989;53:1698 -1704. 22--GeneticGenetic redred flags.flags. FamilyFamily historyhistory ofof MSMS (( firstfirst degreedegree relative)relative) EarlyEarly ageage ofof onsetonset (( lessless thanthan 1515 yearsyears old)old) NatawiczNatawicz andand Bejjani,Am.j.Bejjani,Am.j. GeneticsGenetics ,1994;46,1994;46 149149 --169169 33-- PsychiatricPsychiatric redred flags.flags. MarkedMarked disproportiondisproportion ofof psychiatricpsychiatric symptomssymptoms relativerelative toto objectiveobjective neurologicalneurological signs.signs. PriorPrior historyhistory ofof majormajor psychiatricpsychiatric illnessillness ParlsonParlson GWGW ,south,south medmed JJ 1969;891969;89 ;301;301 --304304 44-- MRIMRI redred flagsflags ------------------------------------------------------------- MRI finding ---------------------- Think over ------------------------------------------------------------- Brain Symmetrical lesions ---------- ADEM,or adult leukodystrophy Absent activity on ------------ > ADEM or chronic Serial scans meningitis Infarcts ------------------------ SLE,lacunes Predominant juxta ------------ > small vessel disease. Cortical lesions Normal brain MRI in spite ----------- Neuromyelitis optica Severe cord and optic nerve lesions SpinalSpinal
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