scholarly journals Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease

2021 ◽  
pp. 211-217
Author(s):  
Koji Obara ◽  
Erika Abe ◽  
Itaru Toyoshima

We report a long-lived patient with Lafora disease (LD). A 34-year-old woman experienced onset of seizures at the age of 11 years. She was bedridden in her early twenties due to frequent generalized tonic-clonic seizures, myoclonus, and progressive mental deterioration. Her seizures occurred all the time despite administration of multiple anticonvulsants at high doses. At the age of 31, she started perampanel, which resulted in reduction of anticonvulsants after her visible myoclonus and convulsions disappeared. Brain magnetic resonance imaging showed marked cerebral and cerebellar atrophy, and single-photon emission computed tomography using N-isopropyl-p-[123I] iodoamphetamine (IMP-SPECT) revealed significant hypoperfusion of the frontal lobe and cerebellum. We identified a W219R homozygous mutation in exon 1 of the NHLRC1 gene. Because perampanel may not only control seizures but also prevent mental deterioration in LD, we propose that perampanel should be administered from the early stage of LD.

2021 ◽  
Vol 12 ◽  
Author(s):  
Yuto Satake ◽  
Hideki Kanemoto ◽  
Kenji Yoshiyama ◽  
Ryoko Nakahama ◽  
Keiko Matsunaga ◽  
...  

The association between primary psychotic disorders emerging in later life and neurodegenerative diseases, including Alzheimer's disease (AD), is controversial. We present two female non-demented cases of psychosis with onset above the age of 60 years. Cases 1 and 2 were aged was 68 and 81 years, respectively. They suffered from persecutory delusions and scored 28 on the Mini-Mental State Examination (MMSE) at the first examination. Although detailed neuropsychological tests detected amnesia, they had preserved daily life function. Brain magnetic resonance imaging, N-isopropyl-p-[123I] iodoamphetamine (123I-IMP) single-photon emission computed tomography, and cardiac [123I]-metaiodobenzylguanidine (123I-MIBG) scintigraphy showed no specific abnormalities in either case. We diagnosed them with very-late-onset schizophrenia-like psychosis (VLOSLP) because there was no evidence that their psychoses were derived from organic diseases or affective disorders. Upon close inspection, the AD biomarkers, cerebrospinal fluid (CSF) testing and Florbetapir F 18 positron emission tomography (PET), were positive in Case 1 and negative in Case 2. Case 1 scored 25 1 year later and 23 2 years later on the MMSE and was finally diagnosed as AD dementia. These two cases suggest that some clinically diagnosed VLOSLPs may be a prodromal AD. Although VLOSLP is a disease entity supposed to be a primary psychotic disorder, some are probably secondary psychosis with insidious neurodegeneration. Advanced biomarkers such as amyloid PET and CSF may contribute to the detection of secondary psychosis from clinically diagnosed VLOSLP.


2020 ◽  
Vol 13 ◽  
pp. 280-284
Author(s):  
Robert Tung ◽  
Johannes Heyns

Background: We recently reported 6 cases of pulmonary/hilar malignancies as the result of incidental findings (IF) on CT attenuation correction (CTAC) during SPECT-CT MPI. In this study, we examined clinical features, diagnostic procedures and clinical outcome on all patients who were had malignancies or significant IF that required further follow-up.  Methods: Of 1098 consecutive patients who underwent cardiac SPECT-CT MPI from 9/1/2017 to 8/31/2018, their MPI and CTAC were reviewed contemporaneously.  Patients with known history of prior pulmonary or chest malignancy were excluded.  Results: A total of 79 (7.2%) patients were identified to have significant IF on CTAC; after diagnostic CT, 47 patients were found to have significant findings that warranted further follow-up and included in this study. Eight patients (0.73%) were found to have malignancy of the chest because of IF on the CTAC.   There was no statistical difference in baseline characteristics and cancer risk factors among patients who were found to have cancer vs those without.  At the time of diagnosis, 4 patients were found to have cancer at advanced stage who all died within 12 months while 3 others had lung cancer of early stage and 1 mantle cell lymphoma were alive at a mean follow-up of 17.5+/-2.1 months. Biopsy for tissue diagnosis were performed safely: with needle biopsy, major complication occurred in 1 patient (1/9 or 11.1%); none with surgical biopsy. Conclusions: This study underscores the importance of reviewing CTAC images obtained during cardiac SPECT-CT MPI to potentially detect clinically important incidental findings.


2020 ◽  
Vol 21 (23) ◽  
pp. 9190
Author(s):  
Olga Krasnovskaya ◽  
Daniil Spector ◽  
Alexander Zlobin ◽  
Kirill Pavlov ◽  
Peter Gorelkin ◽  
...  

One of the hallmarks of Alzheimer’s disease (AD) is the deposition of amyloid plaques in the brain parenchyma, which occurs 7–15 years before the onset of cognitive symptoms of the pathology. Timely diagnostics of amyloid formations allows identifying AD at an early stage and initiating inhibitor therapy, delaying the progression of the disease. However, clinically used radiopharmaceuticals based on 11C and 18F are synchrotron-dependent and short-lived. The design of new metal-containing radiopharmaceuticals for AD visualization is of interest. The development of coordination compounds capable of effectively crossing the blood-brain barrier (BBB) requires careful selection of a ligand moiety, a metal chelating scaffold, and a metal cation, defining the method of supposed Aβ visualization. In this review, we have summarized metal-containing drugs for positron emission tomography (PET), magnetic resonance imaging (MRI), and single-photon emission computed tomography (SPECT) imaging of Alzheimer’s disease. The obtained data allow assessing the structure-ability to cross the BBB ratio.


Author(s):  
Safia Naveed ◽  
Gurunathan Geetha

Background: Scanning Electron Microscope (SEM) Camera Imaging shows and helps analyze hidden organs in the human body. SEM image analysis provides in-depth and critical details of organ abnormalities. Similarly, the human tongue finds use in the detection of organ dysfunction with tongue reflexology. Objective: To detect diabetes at an early stage using a non-invasive method of diabetes detection through tongue images and to utilize the reasonable cost of modality (SEM camera) for capturing the tongue images instead of the existing and expensive imaging modalities like X-ray, Computed Tomography, Magnetic Resonance Imaging, Positron Emission Tomography, Single-Photon Emission Computed Tomography etc. Methods: The tongue image is captured via SEM camera, it is preprocessed to remove noise and resize the tongue such that it is suitable for segmentation. Greedy Snake Algorithm (GSA) is used to segment the tongue image. The texture features of the tongue are analyzed and finally it is classified as diabetic or normal. Results: Failure of organs stomach, intestine, liver and pancreas results in change of the color of the tongue, coating thickness and cracks on the tongue. Changes in pancreas proactive behavior also reflect on tongue coating. The tongue coating texture varies from white or vanilla to yellow also the tongue coating thickness also increases. Conclusion: In this paper, the author proposes to diagnose Diabetes Type2 (DT2) at an early stage from tongue digital image. The tongue image is acquired and processed with Greedy Snake Algorithm (GSA) to extract edge and texture features.


BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Hiroyuki Watanabe ◽  
Manabu Ikeda ◽  
Etsuro Mori

Abstract Background Neologisms are commonly encountered in patients with acute cerebrovascular diseases, particularly in those with Wernicke’s aphasia. However, few studies have investigated primary progressive aphasia with neologisms in neurodegenerative disease. Case presentation We describe the case of a 74-year-old, right-handed man who developed logopenic progressive aphasia (LPA) with neologisms. He was assessed with neuropsychological tests, magnetic resonance imaging, and single-photon emission computed tomography. Neologisms accounted for a relatively large portion of the paraphasic errors in the naming tests performed during the neuropsychological assessment. He had all the diagnostic features of LPA. Notably, the unique feature of this patient was the presentation of neologisms, which are seldom observed in typical LPA. Conclusions Neologisms are considered rare symptoms in patients with early-stage LPA. Our findings in this case report provide new insights into the spectrum of clinical features in LPA.


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