Andrade, LC

Felix-Morais, R

Rebelo, O

PubMed

CHUC Institutional Repository

Creutzfeldt-Jakob disease: typical imaging findings

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Repositório Institucional dos Hospitais da Universidade de Coimbra

Creutzfeldt-Jakob disease: typical imaging ﬁndingsRicardo Felix-Morais,1 Luisa Costa Andrade,1 Olinda Rebelo21Department Medical Imaging,Coimbra University andHospital Centre, Coimbra,Portugal2Department of Neurology,Coimbra University andHospital Centre, Coimbra,PortugalCorrespondence toDr Ricardo Felix-Morais,ricardofelixmorais@gmail.comAccepted 5 March 2014To cite: Felix-Morais R,Andrade LC, Rebelo O. BMJCase Rep Published online:[please include Day MonthYear] doi:10.1136/bcr-2014-203997DESCRIPTIONA 63-year-old woman, previously healthy, pre-sented with a 2-month history of progressivememory impairment, disorientation and behav-ioural changes. Examination revealed dysphasia,cerebellar ataxia and hypertonia of her upperlimbs. Stimulus-sensitive myoclonus was also noted.Head CT was normal. MRI study was performedand revealed symmetric bilateral hyperintensities inputamen and caudate nucleus on T2-weighted(ﬁgure 1) images and ﬂuid-attenuation inversionrecovery (ﬁgure 2). On diffusion-weighted imaging,striatum and cortical frontotemporal gyriformhyperintense areas (cortical ribboning) were noted(ﬁgure 3), with restricted diffusion on apparent dif-fusion coefﬁcient maps.The rapidly progressive dementia associated withthe typical imaging ﬁndings, was strongly suggestiveof Creutzfeldt-Jakob disease (CJD).1The disease progressed relentlessly, with rapidcognitive and functional impairment towards akin-etic mutism. The patient died 3 months after heradmission. Postmortem brain autopsy revealed thepresence of abnormal protease-resistant prionprotein (ﬁgure 4), conﬁrming the diagnosis.CJD, is a rare neurodegenerative disease, with anincidence of 1:1 000 000/year worldwide.2Sporadic CJD is caused by prion, an abnormalisoform of a normal host-encoded protein, leadingto a spongiform encephalopathy.The sporadic form is the most common (90%),but hereditary (10%) and acquired forms also exist(<1%).2 Typically, symptom onset occurs at sixthto seventh decade, with rapidly progressive demen-tia associated with myoclonic jerks and a variableconstellation of pyramidal, extrapyramidal andcerebellar signs.3 Rapid progression towardsFigure 1 Axial T2-weigthed images: bilateralhyperintense signal in the caudate and putamen.Figure 2 Axial ﬂuid-attenuation inversion recovery:symmetric bilateral hyperintensity in the caudate andputamen.Figure 3 Diffusion-weighted imaging: diffusionrestriction in the caudate nuclei and putamen. There isalso typical hyperintensity in frontal and temporal lobe(‘cortical ribbons’).Felix-Morais R, et al. BMJ Case Rep 2014. doi:10.1136/bcr-2014-203997 1Images in…akinetic mutism is the rule. Death usually ensues within monthsof clinical onset, with less than 10% rate survival within the ﬁrstyear.2 No effective treatment exists.Contributors RF-M and LCA wrote the ﬁnal version of the article. OR realised thebiopsy. RF-M, LCA and OR contributed with signiﬁcant revision to the article. Allauthors read and approved the ﬁnal manuscript.Competing interests None.Patient consent Obtained.Provenance and peer review Not commissioned; externally peer reviewed.REFERENCES1 Johnson R, Gibbs C Jr. Creutzfeldt-Jakob disease and related transmissiblespongiform encephalopathies. N Engl J Med 1998;339:1994–2004.2 Kojima G, Tatsuno B, Inaba M, et al. Creutzfeldt-Jakob disease: a case report anddifferential diagnoses. Hawaii J Med Public Health 2013;72:136.3 Zerr I, Kallenberg K, Summers D, et al. Updated clinical diagnostic criteria forsporadic Creutzfeldt-Jakob disease. Brain 2009;132:2659–68.Copyright 2014 BMJ Publishing Group. All rights reserved. For permission to reuse any of this content visithttp://group.bmj.com/group/rights-licensing/permissions.BMJ Case Report Fellows may re-use this article for personal use and teaching without any further permission.Become a Fellow of BMJ Case Reports today and you can:▸ Submit as many cases as you like▸ Enjoy fast sympathetic peer review and rapid publication of accepted articles▸ Access all the published articles▸ Re-use any of the published material for personal use and teaching without further permissionFor information on Institutional Fellowships contact consortiasales@bmjgroup.comVisit casereports.bmj.com for more articles like this and to become a FellowFigure 4 Immunostaining of protease-resistant prion protein.Learning points▸ A rapidly progressive dementia associated with myoclonicjerks, pyramidal, extrapyramidal or cerebellar signs, issuggestive of Creutzfeldt-Jakob disease.▸ Best imaging tool: MRI with ﬂuid-attenuation inversionrecovery (FLAIR) and diffusion-weighted imaging (DWI).▸ Best imaging clues– T2-weighted and FLAIR: bilateral hyperintense signal inbasal ganglia.– DWI: hyperintensity in basal ganglia and cortex.2 Felix-Morais R, et al. BMJ Case Rep 2014. doi:10.1136/bcr-2014-203997Images in…

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Creutzfeldt-Jakob disease: typical imaging findings

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