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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.


Brain magnetic resonance images at week 2. Legend: the primary evaluation – no significant changes. Retrospective reevaluation - slight increase in signal intensity in the occipital cortex DW sequence (e, f), without pathological lesions in the other sequences (a, b, c, d, g and h)
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Fig2: Brain magnetic resonance images at week 2. Legend: the primary evaluation – no significant changes. Retrospective reevaluation - slight increase in signal intensity in the occipital cortex DW sequence (e, f), without pathological lesions in the other sequences (a, b, c, d, g and h)

Mentions: The disease manifested in a healthy 53 years old female patient 7 weeks prior to the initial visit to our center with sudden onset of blurred vision, dizziness, disturbed gait and coordination impairment. Before the manifestation of symptoms patient was healthy, no prior dementia cases in patient’s family history were recorded. Two weeks after initial symptoms presentation patient was hospitalized in the Department of Neurology of Regional Hospital. Neither ophthalmologic examination nor blood test revealed any significant changes. Brain computed tomography (CT) (Fig. 1) and MRI (Fig. 2) were evaluated as normal. Although after retrospective reevaluation of MRI, slight increase in the occipital DW signal was found (Fig. 2). EEG was performed on the 6th week since initial disease presentation did not show any specific changes. Initially, the patient was diagnosed with primary hypertension (blood pressure was 150/70 mmHg): Spironolactone 25 mg per day for arterial hypertension and Clonazepam 0,5 mg once a day for insomnia, Betahistine 3 mg three times a day were prescribed. On the sixth week after initial symptoms due to complaints of dizziness, impaired memory, insomnia, emotional lability, the possible causes were differentiated among cerebrovascular and somatoform/conversion disorder. As the symptoms progressed significantly, on the 7th week after the onset of symptoms, the patient was referred to the University Hospital. Clinical course of the disease and the major diagnostic tests are presented in Fig. 3.Fig. 1


Sporadic Creutzfeldt-Jakob disease with unusual initial presentation as posterior reversible encephalopathy syndrome: a case report
Brain magnetic resonance images at week 2. Legend: the primary evaluation – no significant changes. Retrospective reevaluation - slight increase in signal intensity in the occipital cortex DW sequence (e, f), without pathological lesions in the other sequences (a, b, c, d, g and h)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC5120446&req=5

Fig2: Brain magnetic resonance images at week 2. Legend: the primary evaluation – no significant changes. Retrospective reevaluation - slight increase in signal intensity in the occipital cortex DW sequence (e, f), without pathological lesions in the other sequences (a, b, c, d, g and h)
Mentions: The disease manifested in a healthy 53 years old female patient 7 weeks prior to the initial visit to our center with sudden onset of blurred vision, dizziness, disturbed gait and coordination impairment. Before the manifestation of symptoms patient was healthy, no prior dementia cases in patient’s family history were recorded. Two weeks after initial symptoms presentation patient was hospitalized in the Department of Neurology of Regional Hospital. Neither ophthalmologic examination nor blood test revealed any significant changes. Brain computed tomography (CT) (Fig. 1) and MRI (Fig. 2) were evaluated as normal. Although after retrospective reevaluation of MRI, slight increase in the occipital DW signal was found (Fig. 2). EEG was performed on the 6th week since initial disease presentation did not show any specific changes. Initially, the patient was diagnosed with primary hypertension (blood pressure was 150/70 mmHg): Spironolactone 25 mg per day for arterial hypertension and Clonazepam 0,5 mg once a day for insomnia, Betahistine 3 mg three times a day were prescribed. On the sixth week after initial symptoms due to complaints of dizziness, impaired memory, insomnia, emotional lability, the possible causes were differentiated among cerebrovascular and somatoform/conversion disorder. As the symptoms progressed significantly, on the 7th week after the onset of symptoms, the patient was referred to the University Hospital. Clinical course of the disease and the major diagnostic tests are presented in Fig. 3.Fig. 1

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.