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

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.

An unusual presentation of multiple sclerosis

1994 ◽  
Vol 24 (2) ◽  
pp. 525-529 ◽  
Author(s):  
M. H. Hotopf ◽  
S. Pollock ◽  
W. A. Lishman
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Rare Presentation ◽  
Fluid Analysis ◽  
Electrophysiological Tests ◽  
Male Patients

SynopsisTwo male patients who presented with unusual pictures of dementia in the absence of other obvious symptoms or signs are reported. Investigations demonstrated changes highly suggestive of multiple sclerosis (MS) on magnetic resonance imaging, cerebrospinal fluid analysis and electrophysiological tests. We suggest this represents a rare presentation of multiple sclerosis.

scholarly journals Two cases of primary leptomeningeal melanomatosis mimicking subacute meningitis

2017 ◽  
Vol 31 (1) ◽  
pp. 42-46 ◽  
Author(s):  
Sabina Aslan ◽  
Rahsan Gocmen ◽  
Nazire Pınar Acar ◽  
Farid Khasiyev ◽  
Ekim Gumeler ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
The Other ◽  
Imaging Findings ◽  
Correct Interpretation ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
Atypical Cells

Primary involvement of leptomeninges with melanocytic tumours is rarely seen and its diagnosis is challenging. Here we summarise two cases of primary leptomeningeal melanomatosis presenting as subacute meningitis. Both cases have pleocytosis and high protein on cerebrospinal fluid analysis, and demonstrated atypical cells on cytology. On magnetic resonance imaging, there is diffuse leptomeningal thickening and avid enhancement of intracranial and intraspinal leptomeninges. One of them demonstrates T1 shortening due to magnetic effects of melanin, the other case is amelanotic and shows hypointensity on precontrast T1-weighted images. Both cases can be diagnosed with biopsy. In conclusion, these cases highlight the importance of the correct interpretation of cytological and magnetic resonance imaging findings in patients with atypical findings.

scholarly journals Superficial siderosis as a rare cause of visual and auditory pseudohallucinations: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Tobias Braun ◽  
Maxime Viard ◽  
Tobias Struffert ◽  
Omar AlhajOmar ◽  
Mesut Yeniguen ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Psychiatric Symptoms ◽  
Superficial Siderosis ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
First Case ◽  
History Of

Abstract Background Superficial siderosis is a rare disease involving hemosiderin deposits on the surface of brain or spinal cord that are thought to cause clinical symptoms, which usually consist of cranial nerve dysfunction, cerebellar ataxia, or myelopathy. Pseudohallucinations have been described as the patient being aware of the nonreality of hallucination-like phenomena. Data on pseudohallucinations of cerebral somatic origin are sparse. We present a case of auditory and visual pseudohallucinations due to superficial siderosis. Siderosis was diagnosed using cerebrospinal fluid analysis and magnetic resonance imaging as part of the clinical routine for newly emerged psychiatric symptoms. Case presentation An 84-year-old white/european female presented to our hospital with no prior history of psychiatric or neurological disease and no history of trauma. She reported seeing things and hearing voices singing to her for some days. She was aware these phenomena were not real (pseudohallucinations). On examination, no relevant abnormalities were detected. Cerebrospinal fluid analysis showed elevated ferritin. Magnetic resonance imaging with susceptibility-weighted sequences revealed diffuse superficial siderosis in several parts of the brain, among other occipital and temporal gyri. The pseudohallucinations resolved with a risperidone regime. The patient was treated with rivaroxaban because of atrial fibrillation. Potentially elevating the risk of further hemorrhage, this therapy was discontinued, and an atrial appendage occlusion device was implanted. Conclusion We report the first case of pseudohallucinations in superficial siderosis. The risk of missing this diagnosis can be reduced by applying a standardized diagnostic pathway for patients presenting with the first episode of psychiatric symptoms. Somatic and potentially treatable causes should not be missed because they might lead to unnecessary treatments, stigmatization, and legal restrictions of self-determination, especially for elderly people.

Arguments against the biomarker-driven diagnosis of AD

2012 ◽  
Vol 25 (2) ◽  
pp. 177-181 ◽  
Author(s):  
Helen F.K. Chiu ◽  
Henry Brodaty
Keyword(s):  
Magnetic Resonance Imaging ◽  
Positron Emission Tomography ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Early Diagnosis ◽  
Research Agenda ◽  
Emission Tomography ◽  
Resonance Imaging ◽  
Positron Emission ◽  
Magnetic Resonance Imaging Mri

Impressive developments in the biomarker diagnosis of Alzheimer's disease (AD and pre-symptomatic states, using cerebrospinal fluid (CSF), positron emission tomography (PET), magnetic resonance imaging (MRI), and proteomics, have been at the forefront of research in the last decade. With the publication of the criteria of Dubois et al. (2007) and the revised National Institute on Aging and Alzheimer's Association (NIA–AA) criteria for the diagnosis of AD (Jack et al., 2011), this has further ignited the interest and enthusiasm for researchers and clinicians in the field. In some of the major conferences on dementia in recent years, the topic of the biomarker-driven diagnosis of AD has dominated the research agenda. But many questions arise as to how this research will translate into practice. Here, we would like to put forward our arguments against a biomarker-driven diagnosis of AD, and we would caution that very early diagnosis of AD may not result in better care of the subjects.

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