Diagnostic approach to Disclosure ataxic child - AACPDM · PDF fileCogan ocular motor apraxia...

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Transcript of Diagnostic approach to Disclosure ataxic child - AACPDM · PDF fileCogan ocular motor apraxia...

  • 9/9/2013

    1

    Diagnosticapproachtotheataxicchild

    AP

    AACPDM67th AnnualMeetingMilwaukee,October1619,2013

    AndreaPoretti,MDPostdoctoralresearchfellowDivisionofPediatricRadiologyJohnsHopkinsHospital HilaryGwynn,MD

    AssistantProfessorofNeurologyJohnsHopkinsSchoolofMedicinePhelpsCenterKennedyKriegerInstitute

    AlecHoon,MDAssociateProfessorofPediatricsJohnsHopkinsSchoolofMedicineDirector,PhelpsCenterKennedyKriegerInstitute

    Disclosure

    Wehavenothingtodiscloseandnofinancialrelationsinterferingwithourpresentation

    AP

    TakeHomeMessages

    Ataxia:different systems andcourses Cerebellarataxia most prevalent inchildren History +examination:most importantdiagnostic tools

    Neuroimaging:keyrole incerebellarataxia Cerebellardysfunction:motor+cognitive

    AP

    Outline

    Cerebellum:embryologyandanatomyDefinitionofataxiaanditsclinicalfindingsExamplesofpediatricataxiaAtaxiaRatingScalesTreatment

    AP

    CerebellarDevelopment

    APtenDonkelaar HJetal,JNeurol,2003

    CerebellarDevelopment

    Verylong:earlyembryonicperiod=>firstpostnatalyearsDevelopmentofcerebellumandbrainstemarecloselylinkedSeveralgenesinvolved=>widespectrumofmalformationsProtracteddevelopment=>vulnerabletoseveraldevelopmentaldisorders

    AP

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    CerebellarDevelopment:SelectiveVulnerability

    APPorettiAetal,Eur JPaed Neurol,2009

    CerebellarAnatomy

    AP

    CerebellarAnatomy

    APGranziera Cetal,PLoS One,2009

    CerebellarCerebral Connections

    APKrienen FMandBucknerRL,Cortex,2009

    CerebellarCerebral Connections

    AP

    Volpe JJ,JChildNeurol,2009AP

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    Ataxia

    Ataxia=lackoforder

    Medicine=imbalance,incoordination

    Commonprobleminchildneurology,butbroaddifferentialdiagnosis=challenging

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    Ataxia:Classification

    CerebellarSensoryVestibularOpticEpilepticpseudoataxiaFunctional/psychogenic

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    Affectedsystem Course

    AcuteNonprogressiveProgressiveIntermittentEpisodic

    Diagnostic Approach

    1. History2. Examination3. Targetedadditional

    investigations: Laboratory Neuroimaging Genetic

    4. Diagnosis

    AP

    History

    1. Basic(background)history2. Neurologicalhistory: Familyhistory Pastmedicalhistory Socialhistory Toxinexposure,medication Patientsperceptionofproblem

    AP

    History Issues

    Noteasytodifferentiatestatic slowlyprogressing: Shorttermobservation Clinicalheterogeneitywithvariablecourse

    Someexamples: CerebellarataxiainCDGsyndrome CerebellarataxiaincoenzymeQ10deficiency MarinescoSjgren syndrome

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    Examination

    Neurological

    Testforcerebellardysfunction Testforothersystem

    involvement: Abnormaleyemovements:

    Nystagmus Ocularmotorapraxia

    Polyneuropathy Spasticity Encephalopathy

    General

    Involvementofotherorgans: Eye:retina,cataract,optic

    nerve Hearing Skin Organomegaly

    AP

    Ataxiapurevs.Ataxiaplus?

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    CerebellarMotorDysfunction

    Impairedcoordinationandmotorcontrol: Stance Gait Limb Dysmetria Speech Dysarthria Swallowing Dysphagia Eyemovements Nystagmus

    Trunk Ataxia

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    TruncalAtaxia

    Sitting: Supportneeded

    Stance: Broadbased Tandemposition,standingononeleg

    AP

    Rombergtest:Askpatientto1. Stand2. Closeeyes Negative(normal)=nochange Positive=lossofpositionsense

    cerebellardisease

    TruncalAtaxia:Gait

    Cerebellardysfunction: Widebased Irregularrhythm,irregularsteps Truncal titubation Unilaterallesion=>stumble/falltowardsaffectedside

    Influencedbyadditionalabnormalities: Proprioceptive loss Visualimpairment

    AP

    Vestibular deficit Spasticity

    TruncalAtaxia

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    Limb Ataxia

    Dysmetria:incoordinationofalimbwhileperformingataskInten ontremor:amplitudeasanextremityapproachestheendpointDysdiadochokinesia:incoordinationwhileperformingalternatingmovements

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    Limbataxia

    Fingernosetest:simple,boringExaminationshouldbefun,includeactivitiesofdailylife: Drawing,writing,pegboard,games,..

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    LimbAtaxia

    Archimedes spiral Ladder

    AP

    Limb Ataxia

    Slowdown:fasteriseasier!Lookforcompensatorytricks! Armsupportontable,armspressedagainsttrunk,pencilfirmlypressedonpaper

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    Speech

    Dysartria=scanningspeechPoorlymodulatedrate,rhythmandforce

    AP

    Nystagmus

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    Involuntaryeyemovementalternatingaslowandafastcomponentintwodirections

    Nystagmus

    AP

    Horizontalnystagmus =>unilaterallesion:SlowandcoarselookingtowardslesionFasterandfinerlookingawayfromlesion

    Verticalnystagmus =>central(brainstem/cerebellarlesion)Downbeat:craniocervical junction,toxicUpbeat:MS,ischemic,degenerative

    Nystagmus

    AP

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    Nystagmus

    AP

    Ocular MotorApraxia

    CongenitaloracquiredimpairmentofvoluntaryhorizontalsaccadesCompensatoryjerkyheadmovementstoenablefixationCongenital:Joubert,CogandiseaseAcquired:Ataxiatelenagiectasia,AOA1,AOA2

    AP

    Ocular MotorApraxia

    AP

    Ocular MotorApraxia

    AP

    Opsoclonus

    RapidInvoluntaryMultivectorial(horizontal+vertical)Chaotic/unpredictableConjugate

    Opsoclonusmyoclonussyndrome(DDofacuteataxia)

    AP

    Opsoclonus

    AP

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    CognitiveFunction +Behavior

    AP

    CerebellarCognitiveAffectiveSyndrome

    ExecutivefunctionSpatialcognitionLanguagedeficitsPersonalitychange

    AP

    Schmahmann JDandShermanJC,Brain,1998

    Dysmetriaof Thought Hypothesis

    Motorsystem=Ataxia

    ThoughtandEmotion=CerebellarcognitiveaffectivesyndromeCerebellumregulatesspeed,capacity,consistencyandappropriatenessofmentalandcognitiveprocesses

    AP

    Dysmetriaof Thought Hypothesis:TopographyAnterior Posterior

    Sensorimotor : Predominantlyanteriorlobe(I V)

    Cognitive,affective: Predominantlyneocerebellum (vermal+hemisphericcomponentsofVI+VII)

    AP

    No ataxia

    Ipsilateralcerebellar

    motor syndrome

    Schmahmann JD,Neuropsychol Rev,2010

    Dysmetriaof Thought Hypothesis:TopographyMedial Lateral

    Vermisandfastigialnucleus: Autonomicregulation,affect,emotionallyimportantmemory

    Cerebellarhemispheresanddentatenucleus: Executive,visualspatial,linguistic,learningandmemory

    APSchmahmann JD,Neuropsychol Rev,2010

    CerebellarCognitive AffectiveSyndrome

    Basedonobservationsinadultswith: Cerebellarstroke Cerebellitis Lowgradecerebellartumors

    Conceptextendedtochildren: Lowgradecerebellartumors Cerebellitis Congenitalnonprogressiveataxia Cerebellarmalformations Cerebellardisruptions

    AP

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    CerebellarAtaxia

    AcuteProgressiveNonprogressive

    AP

    ProgressiveCerebellarAtaxia

    LonglistofrarediseasesHeterogeneousgroup(clinical,genetic)FocuseddiagnosticworkupOnlyfewaretreatable4050%withoutspecificdiagnosisDominantlyinheritedspinocerebellar ataxias(SCA)=rareinchildhood

    AP

    Friedreich Ataxia

    AutosomalrecessiveInvolvedorgans:CNS,myocardium,pancreasPresentation:clumsiness,ataxiaPescavusandscoliosis=latesignsAreflexia:alreadypresentinpreclinicalstageMRI:normalcerebellum,cervicalcordatrophyDD:CharcotMarieToothpolyneuropathy

    AP

    Friedreich Ataxia

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    NonProgressive CerebellarAtaxia

    Nonprogressive congenitalataxiaCerebellarmalformations: Joubertsyndrome,rhombencephalosynapsis,DandyWalker malformation

    Cerebellardisruptions: Unilateral cerebellarhypoplasia,cerebellardisruptioninpretermneonates

    AP

    NonProgressive CongenitalAtaxia(NPCA)

    Congenital=earlyevidenceofcerebellarataxia,notreallycongenitalNoreliabledataaboutprevalence,butmorecommonthananydefinedcerebellarmalformation

    AP

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    NPCA:Early Presentation

    Hypotonia(noweakness,normalreflexes)Delayedmotor+languagemilestonesAtaxia:notcongenital,inthefirstyearoflifeDD: Variant(buttom shuffler) Neuromusculardisorder Syndromic (e.g.neurofibromatosistype1) Developmentaldelay

    AP

    NPCAinToddlers

    Situationdominatedbyimpairedmotorperformance: Slow,careful;avoidanceofdifficulttasks Balanceproblemsmoreevidentonsoftground,changinggaitdirection,gaitinitiation/deceleration

    Withage: Impairedcoordinationmoreobvious Delayinlanguagemilestones Concernsaboutcognitiveabilities

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    NPCA:LongTerm Problems

    AtaxiatendstoimproveMajorlimitation=intellectualdisabilityIncreasedprevalenceofseizuresSomepatients:spasticdystoniccomponent

    AP

    NPCA:NeuroimagingSpectrum

    1. Normal:mostprevalent2. Cerebellarhypoplasia3. Mimickingcerebellaratrophy

    =>Intrafamilialvariabilityobserved=>Nocorrelationimaging clinical outcome

    AP

    Hypoplasia Atrophy

    Hypoplasia

    Decreased size/volume ofcerebellum

    Notfilling normallyconfigurated post.fossa orsmall posterior fossa

    But:increased interfoliarspaces possible

    No evidence of progression

    Atrophy

    Dilatedinterfoliarspaces Evolving,progressive Normalsizeofposterior

    fossa

    AP

    Poretti A et al, Eur J Paeditr Neurol, 2008

    NPCA:NeuroimagingSpectrum

    AP

    NormalMRIingirl with NPCA,2sisters similarly affected

    Cerebellarhypoplasiainboy with NPCA

    Childwith staticcerebellarataxia over yearsMRI:Dilated interfolial

    spaces mimicking atrophy

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    NPCA:Genetics

    Autosomalrecessiveinheritance: Manyfamilialobservations Somegeneloci/genes(e.g.VLDLR,CA8,ZNF592,WDR81)identifiedinisolatedNPCAorNPCAplus(e.g.deafness,opticatrophy,shortstature)

    FewpublicationsonfamilieswithdominantorXlinkedinheritance,nogenesidentified

    AP

    NPCA:Differential Diagnosis