Dados do Trabalho

Título

A “variant” in the diagnosis of sporadic Creutzfeldt-Jakob disease

RESUMO

Case presentation
M.P.J,♀ , 73 years old, presented with a history of progressive gait ataxia since Jan 2021, evolving with hypophonia, memory loss, executive dysfunction, agitation and dysphagia over a few months. In July 2021 the patient became wheelchair bound and totally dependent to perform daily activities.
Exam: echolalia, did not follow commands, pupils were miotic and poorly responsive to light. Marked ataxia, unable to stand. Action tremor, myoclonus, mild paratonia and brisk reflexes in the upper limbs.
Brain MRI showed restricted diffusion in the left frontoparietal cortex, bilateral pulvinar and caudate nuclei, with the “double hockey stick sign”. 14-3-3 protein testing in CSF was negative. EEG was nonspecific. Investigation for other causes was unremarkable. A diagnosis of probable sporadic Creutzfeldt-Jakob disease (sCJD) was made. The patient died within 13 months of symptoms onset.
Discussion
sCJD is a fatal neurodegenerative disorder. Diagnosis is made through clinical presentation and at least one supporting test: periodic sharp wave complexes in EEG; elevated 14-3-3 protein in the CSF (not sensitive nor specific). In 2009 the criteria were updated to include typical MRI findings [1]. The patient in question filled all clinical criteria for probable sCJD. Despite negative CSF protein 14-3-3 and EEG, she had one positive supporting test, an altered MRI, showing the “double hockey stick sign”, reported to be up to 100% specific for the variant form of the disease [2]. Although this sign has been rarely seen in the sporadic form [3, 4]. Correlation with others MRI findings suggestive of sDCJ could be useful in the differentiation of vDCJ such as: pulvinar involvement with lower signal intensity than putamen and caudate best seen in DWI compared to FLAIR and prominent cortical diffusion restriction [5].
Conclusion
This case illustrates how a patient with probable sDCJ may present as a mimic of a much rarer and epidemiologically concerning form of the disease, variant CJD (vCJD), with an MRI sign reported to be highly specific to it. Thus, clinicians should be wary when encountering “classical” clinical or imaging findings, and remember to consider the full picture in context. In this case, the patient did not fill the criteria for vCJD besides the MRI finding - she did not live in a risk area, did not have predominant psychiatric symptoms and was not in the age group most commonly affected. [1]

Palavras Chave

Dementia; prion; Creutzfeldt-Jakob; variant; sporadic; neuroimage