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

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ABSTRACT

Background: Creutzfeldt - 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 presentation: We 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.

Conclusions: In 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.

No MeSH data available.


Magnetic resonance images at week 9. Legend: hyperintense lesions in T2W/FLAIR, T2W, DW, ADC (b, c, d, e, g) sequences in the occipital lobes cortex (both sides) and subcortical white matter (in the right side) arrows slight hiperintense lesions in bilateral subcortical nuclei (head of the nucleus caudatus, n. lentiformis) in T2W/FLAIR, DW (a, d, arrows) sequences with hypointensive signal SI lesions in ADC coefficient (f); hypointense lesion in the right occipital lobe in T1W sequence (h, arrow) with some contrast media enhancement dots
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Fig5: Magnetic resonance images at week 9. Legend: hyperintense lesions in T2W/FLAIR, T2W, DW, ADC (b, c, d, e, g) sequences in the occipital lobes cortex (both sides) and subcortical white matter (in the right side) arrows slight hiperintense lesions in bilateral subcortical nuclei (head of the nucleus caudatus, n. lentiformis) in T2W/FLAIR, DW (a, d, arrows) sequences with hypointensive signal SI lesions in ADC coefficient (f); hypointense lesion in the right occipital lobe in T1W sequence (h, arrow) with some contrast media enhancement dots

Mentions: The MRI, done on the 9th week (Fig. 5) showed in T2W increased signal intensity (SI) zones in cortical gray and subcortical white matter, especially on the right side without restriction in DWI sequence, in the parietal-occipital area supplied by the posterior cerebral artery, leading to the conclusion of posterior reversible encephalopathy syndrome (PRES). The typical imaging finding is vasogenic oedema in the subcortical white matter of the parietal and occipital lobes [23]. As an experience with PRES grows, atypical presentations of PRES are being increasingly described: the cases with atypical vasogenic oedema patterns of distribution, such as frontal lobe, cerebellum, basal ganglia or brain stem involvement [23–26]. This non-specific radiological pattern in our case also raised a new diagnostic challenge. Normalization of blood pressure due to antihypertensive treatment and other symptomatic treatment did not improve neurologic symptoms. During the period of the next two weeks all possible causes (vascular, ictal, infectious) of PRES were ruled out [27]. A diagnosis of CJD was suspected the first time.Fig. 5


Sporadic Creutzfeldt-Jakob disease with unusual initial presentation as posterior reversible encephalopathy syndrome: a case report
Magnetic resonance images at week 9. Legend: hyperintense lesions in T2W/FLAIR, T2W, DW, ADC (b, c, d, e, g) sequences in the occipital lobes cortex (both sides) and subcortical white matter (in the right side) arrows slight hiperintense lesions in bilateral subcortical nuclei (head of the nucleus caudatus, n. lentiformis) in T2W/FLAIR, DW (a, d, arrows) sequences with hypointensive signal SI lesions in ADC coefficient (f); hypointense lesion in the right occipital lobe in T1W sequence (h, arrow) with some contrast media enhancement dots
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC5120446&req=5

Fig5: Magnetic resonance images at week 9. Legend: hyperintense lesions in T2W/FLAIR, T2W, DW, ADC (b, c, d, e, g) sequences in the occipital lobes cortex (both sides) and subcortical white matter (in the right side) arrows slight hiperintense lesions in bilateral subcortical nuclei (head of the nucleus caudatus, n. lentiformis) in T2W/FLAIR, DW (a, d, arrows) sequences with hypointensive signal SI lesions in ADC coefficient (f); hypointense lesion in the right occipital lobe in T1W sequence (h, arrow) with some contrast media enhancement dots
Mentions: The MRI, done on the 9th week (Fig. 5) showed in T2W increased signal intensity (SI) zones in cortical gray and subcortical white matter, especially on the right side without restriction in DWI sequence, in the parietal-occipital area supplied by the posterior cerebral artery, leading to the conclusion of posterior reversible encephalopathy syndrome (PRES). The typical imaging finding is vasogenic oedema in the subcortical white matter of the parietal and occipital lobes [23]. As an experience with PRES grows, atypical presentations of PRES are being increasingly described: the cases with atypical vasogenic oedema patterns of distribution, such as frontal lobe, cerebellum, basal ganglia or brain stem involvement [23–26]. This non-specific radiological pattern in our case also raised a new diagnostic challenge. Normalization of blood pressure due to antihypertensive treatment and other symptomatic treatment did not improve neurologic symptoms. During the period of the next two weeks all possible causes (vascular, ictal, infectious) of PRES were ruled out [27]. A diagnosis of CJD was suspected the first time.Fig. 5

View Article: PubMed Central - PubMed

ABSTRACT

Background: Creutzfeldt - 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 presentation: We 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.

Conclusions: In 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.

No MeSH data available.