Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease

2019 ◽  
Vol 64 ◽  
pp. 47-49
Author(s):  
Yoon-Jung Kang ◽  
Kyung-Hye Kim ◽  
Sung-Hwan Jang ◽  
Gha-Hyun Lee ◽  
Yoon-Jung Lee ◽  
...  
Keyword(s):  
Diffusion Weighted Imaging ◽  
Diffusion Weighted ◽  
Jakob Disease

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

2020 ◽  
Vol 33 (13) ◽  
Author(s):  
Renato Oliveira ◽  
Marta Dias ◽  
Inês Brás Marques
Keyword(s):  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Diffusion Weighted Imaging ◽  
Negative Symptoms ◽  
Sudden Onset ◽  
Lower Limbs ◽  
Progressive Dementia ◽  
Radiological Features ◽  
Diffusion Weighted ◽  
Jakob Disease

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.

scholarly journals Heidenhain variant sporadic Creutzfeldt-Jakob disease diagnosed as an autoimmune encephalitis due to a false-positive GAD autoantibody

2019 ◽  
Vol 12 (5) ◽  
pp. e229018
Author(s):  
Nicolás Urriola ◽  
Kavie Soosapilla ◽  
Geoffrey Herkes ◽  
Joseph Nogajski
Keyword(s):  
Diffusion Weighted Imaging ◽  
Autoimmune Encephalitis ◽  
Visual Field Defects ◽  
Acid Decarboxylase ◽  
Gad Autoantibodies ◽  
Diffusion Weighted ◽  
Signal Abnormality ◽  
Original Presentation ◽  
Fluid Attenuated Inversion Recovery ◽  
Jakob Disease

A 64-year-old man presented with a subacute history progressive visual field defects, illusions and misperceptions. An initial MRI brain revealed a right occipital signal abnormality on diffusion-weighted imaging (DWI) with serum glutamic acid decarboxylase (GAD) autoantibodies markedly elevated. A diagnosis of autoimmune encephalitis was made, with the patient being treated with intravenous immunoglobulin. One month after discharge, the patient represented with worsening frank and well-formed visual hallucinations, ataxia and progressive cognitive impairment. Progress MRI displayed characteristic T2 ribboning on diffusion weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) sequences, along with periodic sharp wave complexes on electroencephalogram (EEG) and a raised CSF protein 14-3-3. Repeat serum, as well as cerebrospinal fluid (CSF), GAD antibodies were again markedly elevated as measured by ELISA (RSR, Cardiff, UK), although archival CSF from the original presentation as well as CSF from the second presentation had undetectable GAD autoantibodies as measured via radioimmunoassay (DIAsource, Ottignies-Louvain-la-Neuve, Belgium). Creutzfeldt-Jakob disease was confirmed at autopsy.

Creutzfeldt-Jakob disease: Which diffusion-weighted imaging abnormality is associated with periodic EEG complexes?

2008 ◽  
Vol 255 (9) ◽  
pp. 1411-1414 ◽  
Author(s):  
N. Kandiah ◽  
K. Nagaendran ◽  
K. Tan ◽  
A. B. S. Pan ◽  
W. L. Au ◽  
...  
Keyword(s):  
Diffusion Weighted Imaging ◽  
Diffusion Weighted ◽  
Jakob Disease

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

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.

Prognostic value of diffusion-weighted imaging in patients with newly diagnosed sporadic Creutzfeldt-Jakob disease

2021 ◽  
Author(s):  
Ho Young Park ◽  
Chong Hyun Suh ◽  
Woo Hyun Shim ◽  
Seon-Ok Kim ◽  
Woo Seok Kim ◽  
...  
Keyword(s):  
Diffusion Weighted Imaging ◽  
Prognostic Value ◽  
Newly Diagnosed ◽  
Diffusion Weighted ◽  
Jakob Disease
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