scholarly journals Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt–Jakob Disease With the V180I Mutation

2021 ◽  
Vol 12 ◽  
Author(s):  
Ryuichi Koizumi ◽  
Naohisa Ueda ◽  
Atsushi Mugita ◽  
Katsuo Kimura ◽  
Hitaru Kishida ◽  
...  

The diagnosis of presymptomatic Creutzfeldt–Jakob disease (CJD) is challenging. The levels of total tau protein, 14-3-3 protein, and protease-resistant isoform of prion protein (PrPres) in the cerebrospinal fluid; periodic sharp wave complexes on electroencephalography; and diffusion-weighted imaging (DWI) of brain magnetic resonance imaging (MRI) have all been used to diagnose symptomatic CJD, but none of these markers have been established in the diagnosis of presymptomatic CJD. Here, we report a case of genetic CJD with the V180I mutation in which a small punctate cortical hyperintensity was detected on DWI 6 months before symptom onset and 9 months before diagnosis. Presymptomatic CJD is currently impossible to diagnose because of the lack of established early diagnostic markers. However, since MRI is increasingly used in daily clinical practice, the chance detection of such DWI abnormalities would have important implications in terms of providing a clue to examine a highly specific early diagnostic marker to be developed in the future for CJD. This will allow presymptomatic intervention by disease-modifying therapy in the near future.

2016 ◽  
Vol 29 (6) ◽  
pp. 436-439 ◽  
Author(s):  
Pierre-Luc Gamache ◽  
Maude-Marie Gagnon ◽  
Martin Savard ◽  
François Émond

This article reports the case of a 68-year-old patient with anti-HU antibodies paraneoplastic encephalitis. The clinical manifestations were atypical and the paraclinical work-up, notably the magnetic resonance imaging (MRI) showing bilateral posterior thalamic hyperintensities (pulvinar sign), misleadingly pointed towards a variant Creutzfeld–Jakob disease. After presenting the case, the differential diagnosis of the pulvinar sign is discussed along with other important diagnostic considerations.


2016 ◽  
Vol 7 (01) ◽  
pp. 83-86 ◽  
Author(s):  
Emine Caliskan ◽  
Yeliz Pekcevik ◽  
Adnan Kaya

ABSTRACT Purpose: To evaluate the contribution of conventional brain magnetic resonance imaging (MRI) for the determination of intracranial aneurysms. Materials and Methods: Brain MRI and computed tomography angiography (CTA) of 45 patients (29 women and 16 men; age range, 32–80 years) with aneurysm were analyzed. A comparison was made between brain MRI and CTA based on size and presence of aneurysm. The comparisons between MRI and CTA were investigated through Bland-Altman graphics, receiver operating characteristic curve, and Kappa statistics. Results: Fifty-seven aneurysms were evaluated. Forty-five percent of 57 aneurysms on CTA were detected on conventional brain MRI. A significant correlation was found between CTA and brain MRI in the diagnosis of aneurysm (P < 0.05). In an analysis of the size measurement, a significant correlation was observed between CTA and brain MRI. Seventy-seven percent of aneurysms <4 mm was not detected and the efficiency of MRI in the detection of aneurysms <4 mm was found to be low. Conclusion: Aneurysms can also be appreciated on conventional brain MRI, and vascular structures should be reviewed carefully while analyzing brain MRI.


2007 ◽  
Vol 48 (7) ◽  
pp. 755-762 ◽  
Author(s):  
A. Aalto ◽  
J. Sjöwall ◽  
L. Davidsson ◽  
P. Forsberg ◽  
Ö. Smedby

Background: Borrelia infections, especially chronic neuroborreliosis (NB), may cause considerable diagnostic problems. This diagnosis is based on symptoms and findings in the cerebrospinal fluid but is not always conclusive. Purpose: To evaluate brain magnetic resonance imaging (MRI) in chronic NB, to compare the findings with healthy controls, and to correlate MRI findings with disease duration. Material and Methods: Sixteen well-characterized patients with chronic NB and 16 matched controls were examined in a 1.5T scanner with a standard head coil. T1- (with and without gadolinium), T2-, and diffusion-weighted imaging plus fluid-attenuated inversion recovery (FLAIR) imaging were used. Results: White matter lesions and lesions in the basal ganglia were seen in 12 patients and 10 controls (no significant difference). Subependymal lesions were detected in patients down to the age of 25 and in the controls down to the age of 43. The number of lesions was correlated to age both in patients (ρ = 0.83, P<0.01) and in controls (ρ = 0.61, P<0.05), but not to the duration of disease. Most lesions were detected with FLAIR, but many also with T2-weighted imaging. Conclusion: A number of MRI findings were detected in patients with chronic NB, although the findings were unspecific when compared with matched controls and did not correlate with disease duration. However, subependymal lesions may constitute a potential finding in chronic NB.


Kanzo ◽  
1996 ◽  
Vol 37 (3) ◽  
pp. 170-175
Author(s):  
Naoaki KUWAHARA ◽  
Toshihiro HIGASHI ◽  
Masako TANABE ◽  
Akiko FUJIWARA ◽  
Takeshi MINATO ◽  
...  

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