Sporadic Creutzfeldt-Jakob disease with unusual initial presentation as posterior reversible encephalopathy syndrome: a case report

Abstract

BackgroundCreutzfeldt - Jakob disease (CJD) is a rapidly progressive and fatal neurodegenerative prion disease. MRI findings are included in diagnostic criteria for probable CJD, giving a sensitivity and specificity more than 90%, but the atypical radiological presentations in the early stage of the disease could cause the diagnostic difficulties. CJD can be definitively diagnosed by histopathological confirmation, brain biopsy or at autopsy.Case presentationWe present a case of 53-year-old woman with a history of a rapidly progressive dementia with symptoms of visual impairment, increased extrapyramidal type muscle tonus, stereotypical movements and ataxic gait resulting in the patient’s death after13 months. The clinical symptoms deteriorated progressively to myoclonus and akinetic mutism already on the 14th week. The series of diagnostic examinations were done to exclude the possible causes of dementia. Initial MRI evaluation as posterior reversible encephalopathy syndrome (PRES) on the 9th week after the onset of symptoms created us a diagnostic conundrum. Subsequent MRI findings of symmetrical lesions in the basal ganglia (nucleus caudatus, putamen) on the 13th week and EEG with periodic sharp wave complexes (PSWC) in frontal regions on the 18th week allowed us to diagnose the probable sCJD. The histopathological findings after brain biopsy on the 14th week demonstrated the presence of the abnormal prion protein deposits in the grey matter by immunohistochemistry with ICSM35, KG9 and 12 F10 antibodies and confirmed the diagnosis of sCJD.ConclusionsIn this article we focus our attention on a rare association between radiological PRES syndrome and early clinical stage of sCJD. Although concurrent manifestation of these conditions can be accidental, but the immunogenic or neuropeptide mechanisms could explain such radiological MRI findings. A thorough knowledge of differential diagnostic of PRES may be especially useful in earlier diagnosis of sCJD.

Rapidly progressive sporadic Creutzfeldt-Jakob disease: isolated Heidenhain variant or a combination with PRES?

“…The final diagnosis was probable Creutzfeldt-Jakob disease (CJD) associated with posterior reversible encephalopathy syndrome (PRES). Blood pressure and immunoglobulin therapy may explain PRES 1 . It seems that some types of CJD prion proteins could induce the activation of microglia and dysfunction of vasoconstrictors upregulation, leading to vasospasm, ischemia and PRES 1,2…”

Creutzfeldt-Jakob Disease Presenting as Posterior Reversible Encephalopathy Syndrome

“…While there has been an increase in the use of MRI for diagnosing CJD, atypical findings can be noted in the early clinical stages of sCJD [8]. Interestingly, our MRI revealed cortical and subcortical T2 FLAIR hyperintensities involving bilateral posterior temporal lobes and the left occipital lobe.…”

“…A repeat MRI showed symmetrical lesions in the basal ganglia, and this along with a typical constellation of symptoms led to the consideration of CJD as the most likely diagnosis, which was later confirmed by brain biopsy. [8].…”

Sporadic Creutzfeldt-Jakob Disease Initially Presenting With Posterior Reversible Encephalopathy Syndrome

“…Our case report highlights that sCJD can present clinically and radiographically with findings consistent with PRES. To our knowledge, this is the fourth case reported in the literature for this type of presentation of sCJD 12–14 . While the diagnosis of PRES and CJD may be coincidental, histologic studies suggest there is a plausible mechanistic explanation underlying both disorders.…”

“…To our knowledge, this is the fourth case reported in the literature for this type of presentation of sCJD. [12][13][14] While the diagnosis of PRES and CJD may be coincidental, histologic studies suggest there is a plausible mechanistic explanation underlying both disorders. Prion proteins could induce activation of microglia and cause endothelial dysfunction resulting in radiographic PRES.…”