Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset

2012 ◽  
Vol 319 (1-2) ◽  
pp. 130-132 ◽  
Author(s):  
Yuka Terasawa ◽  
Koji Fujita ◽  
Yuishin Izumi ◽  
Ryuji Kaji
2020 ◽  
Vol 33 (13) ◽  
Author(s):  
Renato Oliveira ◽  
Marta Dias ◽  
Inês Brás Marques

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.


2006 ◽  
Vol 30 (1) ◽  
pp. 126-130 ◽  
Author(s):  
Khin Khin Tha ◽  
Satoshi Terae ◽  
Kohsuke Kudo ◽  
Toru Yamamoto ◽  
Shinsuke Hamada ◽  
...  

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

2006 ◽  
Vol 148 (1) ◽  
pp. 61-66 ◽  
Author(s):  
Lynn E. DeLisi ◽  
Kamila U. Szulc ◽  
Hilary Bertisch ◽  
Magda Majcher ◽  
Kyle Brown ◽  
...  

2019 ◽  
Vol 12 (5) ◽  
pp. e229018
Author(s):  
Nicolás Urriola ◽  
Kavie Soosapilla ◽  
Geoffrey Herkes ◽  
Joseph Nogajski

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.


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

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