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Letter to the Editor
Visual disturbance as an initial manifestation of Creutzfeldt-Jakob disease
Alteración visual como manifestación inicial de la enfermedad de Creutzfeldt-Jakob
Javier Pitarch Fabregata,
Corresponding author
javierpitf@hotmail.com

Corresponding author.
, Alexandre García Escrivàb, Ángel Pellicer Caboc
a Servicio de Medicina Interna, Hospital General Universitari de València, Valencia, Spain
b Servicio de Neurología, Hospital Marina Salud de Dénia, Denia, Spain
c Servicio de Medicina Interna, Hospital Marina Salud de Dénia, Denia, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Visual symptoms such as metamorphopsia&#44; which consists in alterations in the perception of the shape of objects&#44; are usually indicative of the presence of a retinal or macular disorder&#46; However&#44; because they can sometimes be caused by problems at the level of the cerebral cortex&#44; attention must be paid to the presence of other associated neurological symptoms&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">In this paper we describe the case of a 73-year-old man&#44; without a remarkable previous medical history&#44; who presented to our clinic with a two-week history of blurred vision&#44; metamorphopsia&#44; and a mild balance disorder&#46; A neurological examination revealed normal findings&#44; except for an unstable gait with left-sided deviation&#46; Both ophthalmological and otorhinolaryngological examinations were unremarkable&#46; Laboratory tests and an emergency brain computed tomography &#40;CT&#41; scan showed no alterations either&#46; A brain magnetic resonance imaging &#40;MRI&#41; scan only showed signs of demyelination secondary to a small vessel disease&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient&#8217;s condition evolved poorly&#44; with a worsening of his metamorphopsia and the onset of visual hallucinations&#44; an inability to fix his gaze&#44; and subsequent blindness&#46; In addition&#44; he developed incoherent speech&#44; disorientation&#44; bidirectional horizontal nystagmus&#44; balance disorder&#44; and predominantly left-sided dysdiadochokinesia&#46; No changes were detected in a follow-up MRI and ophthalmological exam&#46; However&#44; an electroencephalogram revealed evidence compatible with a generalized encephalopathy&#46; A cerebrospinal fluid &#40;CSF&#41; analysis was also performed&#44; observing normal figures and no onconeural antibodies&#46; On the other hand&#44; a positron emission tomography &#40;PET&#41; scan showed signs of severe hypometabolism in the right parietal&#44; occipital&#44; and temporal cerebral cortex&#46; No improvement was achieved with antiepileptics nor high doses of thiamine or corticosteroids&#46; A second electroencephalogram was performed&#44; observing signs of generalized brain involvement&#44; with abundant triphasic waves adopting a pseudoperiodic pattern&#44; a finding compatible with spongiform encephalopathy&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">The patient eventually developed severe cognitive impairment&#44; myoclonus&#44; and dysphagia&#44; and passed away 40 days later&#46; The postmortem examination revealed small-medium vacuolar spongiosis&#44; astrocytosis&#44; and neuronal loss&#44; especially in the primary visual cortex&#44; the thalamus&#44; the cerebellum&#44; and the entorhinal cortex&#44; with scrapie prion protein &#40;PrP<span class="elsevierStyleSup">Sc</span>&#41; deposits&#44; all being findings compatible with sporadic Creutzfeldt-Jakob disease &#40;CJD&#41;&#46; A study of the <span class="elsevierStyleItalic">PRNP</span> gene detected the MM variant without mutations&#44; and positivity for the 14-3-3 protein in the CSF was also observed&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Creutzfeldt-Jakob disease is a rapidly progressing spongiform encephalopathy caused by prions and fatal within less than one year in the majority of cases&#46; It is categorized as a type of rapidly progressive dementia&#44; is the most frequent prion disease in humans&#44; and can be classified as familial&#44; acquired&#44; or sporadic&#46; An alteration in human prion protein PrP<span class="elsevierStyleSup">c</span> results in an aberrant protein &#40;PrP<span class="elsevierStyleSup">Sc</span>&#41; that accumulates in the central nervous system in the form of aggregates&#46; Its clinical manifestations are varied&#44; including rapidly progressive dementia&#44; cortical deficits &#40;aphasia and visual disturbances&#41;&#44; cerebellar manifestations&#44; extrapyramidal symptoms&#44; myoclonus&#44; and psychiatric alterations&#46; The classic or myoclonic form manifests with progressive cognitive impairment with akinetic mutism and myoclonus in early stages&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The Heidenhain variant is the most aggressive and rapidly progressive form of CJD&#46; Visual alterations and even cortical blindness may occur&#44; often preceding cognitive impairment and myoclonus&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> Visual symptoms in CJD at onset of the Heidenhain variant is rare &#40;3&#46;1&#37;&#8211;20&#37; of cases&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> The most frequent visual manifestations are a lack of object definition&#44; metamorphopsia&#44; color perception disorders &#40;chloropia&#41;&#44; and visual hallucinations associated with cortical blindness&#44; potentially together with nystagmus due to the related cerebellar damage&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">An MRI scan might show restricted diffusion and hyperintensity in the fluid-attenuated inversion recovery &#40;FLAIR&#41; sequence in the affected regions&#44; while an electroencephalogram usually reveals diffuse slowing and periodic triphasic waves in the posterior regions&#44; which are highly specific findings for sporadic CJD and the Heidenhain variant&#46; The definitive diagnosis of CJD is reached through a histology study showing spongiform changes&#44; neuronal loss&#44; astrogliosis&#44; and PrP<span class="elsevierStyleSup">Sc</span> protein aggregates&#44; especially in the most affected regions &#40;occipital cortex in the Heidenhain variant&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">The Heidenhain variant is an uncommon form of CJD that can sometimes present with visual symptoms&#46; Hence&#44; this entity should be considered as a potential differential diagnosis when a clinical picture of visual disturbances with metamorphopsia is followed by rapidly progressive cognitive impairment&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Pitarch Fabregat J&#44; Garc&#237;a Escriv&#224; A&#44; Pellicer Cabo &#193;&#46; Alteraci&#243;n visual como manifestaci&#243;n inicial de la enfermedad de Creutzfeldt-Jakob&#46; Med Clin &#40;Barc&#41;&#46; 2021&#59;157&#58;e335&#8211;e336&#46;</p>"
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ISSN: 23870206
Original language: English
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es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

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Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos