Doença de Creutzfeldt-Jakob: Apresentação Atípica de uma Doença Muito Rara

Creutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. Cerebrospinal fluid analysis showed increased protein count. The workup to investigate autoimmune, infectious and paraneoplastic causes was negative. Symptoms progressively worsened, with left hemiplegia, dysphagia, urinary incontinence, and, later, akinetic mutism. The follow-up brain magnetic resonance scan revealed hyperintensity of bilateral basal ganglia as well as cerebral cortical abnormalities on diffusion-weighted imaging. Electroencephalography showed periodic activity and tau protein levels in the cerebrospinal fluid were elevated. Genetic analysis showed mutation c-598G > A. The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.

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Faculty Opinions recommendation of Diffusion-weighted imaging and magnetic resonance spectroscopy of sporadic Creutzfeldt-Jakob disease: correlation with clinical course.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.7942956.8302054 ◽

2011 ◽

Author(s):

Paolo Vitali ◽

Eduardo Caverzasi

Keyword(s):

Magnetic Resonance ◽

Magnetic Resonance Spectroscopy ◽

Diffusion Weighted Imaging ◽

Clinical Course ◽

Resonance Spectroscopy ◽

Diffusion Weighted ◽

Jakob Disease

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Positron emission tomography imaging in a case of E200K mutation-related spongiform encephalopathy with non-diagnostic magnetic resonance imaging and cerebrospinal fluid testing

SAGE Open Medical Case Reports ◽

10.1177/2050313x17700347 ◽

2017 ◽

Vol 5 ◽

pp. 2050313X1770034

Author(s):

Pravin George ◽

Christopher R Newey ◽

Karin P Mente ◽

Erik P Pioro

Keyword(s):

Magnetic Resonance Imaging ◽

Cerebrospinal Fluid ◽

Magnetic Resonance ◽

Spongiform Encephalopathy ◽

Resonance Imaging ◽

Progressive Dementia ◽

Cerebrospinal Fluid Analysis ◽

Fluid Analysis ◽

Positron Emission ◽

Jakob Disease

Objective: Creutzfeldt–Jakob disease is a rapidly progressive spongiform encephalopathy. The E200K mutation is found in a majority of genetically transmitted Creutzfeldt–Jakob disease cases. Methods: We describe the case and associated neuroimaging of an E200K-129M gene-mutation-related fatal spongiform encephalopathy with resultant clinical insomnia and thalamic changes. Results: A 46-year-old Caucasian male presented with, who was well until 2 months prior to admission, a rapidly progressive dementia followed by a change in personality with auditory and visual hallucinations. His wife noted progressively worsening jerking and other limb movements and that he kept his eyes open overnight and was “awake” at all hours. Magnetic resonance imaging, electroencephalogram and initial cerebrospinal fluid analysis were essentially non-diagnostic. Positron emission topography revealed severe bilateral thalamic hypometabolism. Posthumous cerebrospinal fluid analysis revealed abnormal PrP 27-30 protein. Autopsy confirmed prion disease and presence of the E200K-129M mutation. Conclusion: This report highlights that positron emission topography imaging may help diagnose E200K-129M mutation-related spongiform encephalopathy. In cases of non-diagnostic magnetic resonance imaging, electroencephalogram and cerebrospinal fluid studies, early positron emission topography may help in the workup of rapidly progressive dementia.

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Negative Diffusion Weighted Imaging on Magnetic Resonance Imaging of the Brain in Creutzfeldt–Jakob Disease

Case Reports in Neurological Medicine ◽

10.1155/2020/8857037 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

Elijah Lackey ◽

Deepal P. Shah-Zamora ◽

Jodi Hawes ◽

Andy J. Liu

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Diffusion Weighted Imaging ◽

Caucasian Woman ◽

Rapid Decline ◽

Resonance Imaging ◽

Diffusion Weighted ◽

History Of ◽

Jakob Disease ◽

The Brain

A 76-year-old Caucasian woman initially presented to the Duke Memory Disorders clinic with a 9-month history of a rapid decline in cognitive, motor, and neuropsychiatric function. On initial presentation, the patient required assistance with activities of daily living. On neurological examination, she was found to have Gerstmann’s syndrome along with appendicular apraxia. A positional tremor was noted without myoclonus or fasciculations. She had a paucity of speech and was unable to write her own name. Snout and grasp reflexes were present. Episodes of inappropriate laughter were noted during the exam. She was admitted to the inpatient neurology service for further evaluation. The Diffusion Weighted Imaging sequence on Magnetic Resonance Imaging of the brain was negative for restricted diffusion. An electroencephalogram was unremarkable. Cerebrospinal fluid analysis for Real-Time Quaking-Induced Conversion assay was positive along with an elevated 14-3-3 and increased total Tau protein levels. There was no family history of Creutzfeldt–Jakob disease. The cerebral spinal fluid results were consistent with a diagnosis of Creutzfeldt–Jakob disease, despite the negative MRI brain findings.

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