Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a rare and severe autoimmune encephalitis that displays neuropsychiatric symptoms and autonomic instability, e.g., hypoventilation and cardiac arrhythmia. Severe arrhythmia including asystole associated with this encephalitis is rare. Several causes have been suggested. Nevertheless, no report of the literature has described examination by functional brain imaging of a patient with asystole during anti-NMDA receptor encephalitis. This case is that of a 34-year-old woman diagnosed as having anti-NMDA receptor encephalitis. She repeatedly showed 10-20 s asystole episodes necessitating a temporary transvenous pacemaker. After resection of the bilateral ovarian cystic tumor, her symptoms improved. Regional cerebral blood flow (rCBF) was evaluated using single-photon emission computed tomography. The rCBF was increased in the amygdala, hypothalamus, anterior cingulate, hippocampus, and anterior temporal lobes, but decreased in the dorsolateral frontal lobes, parietal lobes, and occipital lobes. Findings in this case suggest that altered rCBF in the patient with asystole episodes associated with anti-NMDA receptor encephalitis was observed in several brain lesions. The rCBF increases in the central autonomic networks, i.e., the amygdala, hypothalamus, and anterior cingulate, might be associated with dysregulation of sympathetic and parasympathetic nervous systems leading to asystole.
{"title":"Regional cerebral blood flow in a patient with asystole episodes associated with anti-NMDA receptor encephalitis.","authors":"Gaku Aboshi, Takaki Akahane, Keisuke Noto, Ryota Kobayashi, Masakazu Akiho, Akihito Suzuki","doi":"10.1080/13554794.2024.2348221","DOIUrl":"10.1080/13554794.2024.2348221","url":null,"abstract":"<p><p>Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a rare and severe autoimmune encephalitis that displays neuropsychiatric symptoms and autonomic instability, e.g., hypoventilation and cardiac arrhythmia. Severe arrhythmia including asystole associated with this encephalitis is rare. Several causes have been suggested. Nevertheless, no report of the literature has described examination by functional brain imaging of a patient with asystole during anti-NMDA receptor encephalitis. This case is that of a 34-year-old woman diagnosed as having anti-NMDA receptor encephalitis. She repeatedly showed 10-20 s asystole episodes necessitating a temporary transvenous pacemaker. After resection of the bilateral ovarian cystic tumor, her symptoms improved. Regional cerebral blood flow (rCBF) was evaluated using single-photon emission computed tomography. The rCBF was increased in the amygdala, hypothalamus, anterior cingulate, hippocampus, and anterior temporal lobes, but decreased in the dorsolateral frontal lobes, parietal lobes, and occipital lobes. Findings in this case suggest that altered rCBF in the patient with asystole episodes associated with anti-NMDA receptor encephalitis was observed in several brain lesions. The rCBF increases in the central autonomic networks, i.e., the amygdala, hypothalamus, and anterior cingulate, might be associated with dysregulation of sympathetic and parasympathetic nervous systems leading to asystole.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"113-116"},"PeriodicalIF":0.6,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140860917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-01Epub Date: 2024-05-03DOI: 10.1080/13554794.2024.2346985
Rita Abrunzo
Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.
{"title":"Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood.","authors":"Rita Abrunzo","doi":"10.1080/13554794.2024.2346985","DOIUrl":"10.1080/13554794.2024.2346985","url":null,"abstract":"<p><p>Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"103-112"},"PeriodicalIF":0.6,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140860916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-01Epub Date: 2024-05-03DOI: 10.1080/13554794.2024.2348230
Cemre Istanbullu, Binay Kayan Ocakoglu, Gul Karacetin
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder resulting from TCF4 gene mutations which is characterized by dysmorphic facial features, psychomotor delay, intellectual disability, breathing anomalies, and seizures. Psychiatric conditions are occasionally seen. We present the case report of a seven-year-old PTHS patient with anxiety, insomnia, and agitation. We discuss the psychopharmacological intervention options for this patient. The present case study reports on a 7-year-old female with PTHS, autism spectrum disorder (ASD), and intellectual disability. She had insomnia, crying spells and agitation complaints. For anxiety symptoms and agitation, risperidone, fluoxetine, and clonazepam treatment were given by the neurologist which caused behavioral disinhibition, paroxysmal agitation and no benefit. After admission to our hospital, aripiprazole and hydroxyzine were prescribed for anxiety and ASD-related irritability. She showed a minimal improvement but hyperventilation attacks were still ongoing. Hydroxyzine was stopped, and quetiapine was given to eliminate sleep disturbance. Her sleep period went up to eleven hours. For the anxiety symptoms, escitalopram was prescribed. She showed improvements in sleep, diminished hyperactivity and decreased frequency of abnormal breathing spells. Also, enhancement of social communication skills like increased eye contact and response to her name was observed. Patients with genetic syndromes may have various psychiatric complaints. Psychopharmacological interventions should be administered carefully for the side effects.
{"title":"A case of Pitt-Hopkins syndrome: psychopharmacological approach for anxiety, insomnia, and agitation.","authors":"Cemre Istanbullu, Binay Kayan Ocakoglu, Gul Karacetin","doi":"10.1080/13554794.2024.2348230","DOIUrl":"10.1080/13554794.2024.2348230","url":null,"abstract":"<p><p>Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder resulting from TCF4 gene mutations which is characterized by dysmorphic facial features, psychomotor delay, intellectual disability, breathing anomalies, and seizures. Psychiatric conditions are occasionally seen. We present the case report of a seven-year-old PTHS patient with anxiety, insomnia, and agitation. We discuss the psychopharmacological intervention options for this patient. The present case study reports on a 7-year-old female with PTHS, autism spectrum disorder (ASD), and intellectual disability. She had insomnia, crying spells and agitation complaints. For anxiety symptoms and agitation, risperidone, fluoxetine, and clonazepam treatment were given by the neurologist which caused behavioral disinhibition, paroxysmal agitation and no benefit. After admission to our hospital, aripiprazole and hydroxyzine were prescribed for anxiety and ASD-related irritability. She showed a minimal improvement but hyperventilation attacks were still ongoing. Hydroxyzine was stopped, and quetiapine was given to eliminate sleep disturbance. Her sleep period went up to eleven hours. For the anxiety symptoms, escitalopram was prescribed. She showed improvements in sleep, diminished hyperactivity and decreased frequency of abnormal breathing spells. Also, enhancement of social communication skills like increased eye contact and response to her name was observed. Patients with genetic syndromes may have various psychiatric complaints. Psychopharmacological interventions should be administered carefully for the side effects.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"117-120"},"PeriodicalIF":0.6,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140865948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-08-01Epub Date: 2024-02-26DOI: 10.1080/13554794.2024.2315860
Jennifer Martin, Patrik Vuilleumier, Frédéric Assal, Roberta Ronchi
Altitudinal neglect is an atypical form of spatial neglect where brain-damaged patients neglect the lower, or sometimes the upper, part of the space. Our understanding of this phenomena is limited, with unknown occurrence across different reference frames, such as distance (peripersonal vs. extrapersonal) and system of reference (egocentric vs. allocentric). Two patients with acute bilateral (P1) or right hemispheric (P2) stroke, with signs of bottom altitudinal neglect, underwent an extensive evaluation of neglect within 10 days post-stroke. Assessments involved altitudinal neglect and unilateral spatial neglect (USN) in peripersonal space, exploring egocentric and allocentric signs and in extrapersonal space. Compared to a control group of 15 healthy age-matched subjects, patients showed allocentric and egocentric left USN in peripersonal space, and mostly allocentric signs of altitudinal neglect. No signs of neglect were evidenced in extrapersonal space. Altitudinal neglect could thus present as an allocentric form of spatial neglect, suggesting that allocentric representations may not only affect the deployment of attentional resources along horizontal dimensions but also operate along vertical dimensions. Future studies should deepen our understanding of altitudinal neglect, eventually leading to further unravel spatial processes that control attention, their corresponding brain mechanisms, and implications for patients' rehabilitation and functional outcome.
{"title":"Neglecting the bottom space: an object-based disorder? A two-case observational study.","authors":"Jennifer Martin, Patrik Vuilleumier, Frédéric Assal, Roberta Ronchi","doi":"10.1080/13554794.2024.2315860","DOIUrl":"10.1080/13554794.2024.2315860","url":null,"abstract":"<p><p>Altitudinal neglect is an atypical form of spatial neglect where brain-damaged patients neglect the lower, or sometimes the upper, part of the space. Our understanding of this phenomena is limited, with unknown occurrence across different reference frames, such as distance (peripersonal vs. extrapersonal) and system of reference (egocentric vs. allocentric). Two patients with acute bilateral (P1) or right hemispheric (P2) stroke, with signs of bottom altitudinal neglect, underwent an extensive evaluation of neglect within 10 days post-stroke. Assessments involved altitudinal neglect and unilateral spatial neglect (USN) in peripersonal space, exploring egocentric and allocentric signs and in extrapersonal space. Compared to a control group of 15 healthy age-matched subjects, patients showed allocentric and egocentric left USN in peripersonal space, and mostly allocentric signs of altitudinal neglect. No signs of neglect were evidenced in extrapersonal space. Altitudinal neglect could thus present as an allocentric form of spatial neglect, suggesting that allocentric representations may not only affect the deployment of attentional resources along horizontal dimensions but also operate along vertical dimensions. Future studies should deepen our understanding of altitudinal neglect, eventually leading to further unravel spatial processes that control attention, their corresponding brain mechanisms, and implications for patients' rehabilitation and functional outcome.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"121-131"},"PeriodicalIF":0.8,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: Many complications but cortical blindness after percutaneous vertebroplasty has been rarely reported. Here, we describe a case who developed cortical blindness after percutaneous vertebroplasty. We also reviewed the literature to find the possible causes of this complication and its treatment.
Methods: Case report and literature review.
Results: A 71-year-old woman experienced cortical blindness after percutaneous vertebroplast. She developed dizziness, nausea, sweating, blood pressure changes, and vision loss during the procedure. MRI confirmed bilateral cerebral infarctions. The patient recovered with conservative treatment.
Conclusions: Percutaneous vertebroplasty, though helpful, carries a rare risk of cortical blindness. Surgeon awareness is crucial for informing patients of this potential complication.
{"title":"Cortical blindness after percutaneous vertebroplasty: a case report and comprehensive review of the literature.","authors":"Chunnan Shi, Zhijie Wang, Meiying Lin, Zhiqin Chen, Peiyang Xu, Yi Li, Jinshan Zhang","doi":"10.1080/13554794.2024.2346984","DOIUrl":"10.1080/13554794.2024.2346984","url":null,"abstract":"<p><strong>Objective: </strong>Many complications but cortical blindness after percutaneous vertebroplasty has been rarely reported. Here, we describe a case who developed cortical blindness after percutaneous vertebroplasty. We also reviewed the literature to find the possible causes of this complication and its treatment.</p><p><strong>Methods: </strong>Case report and literature review.</p><p><strong>Results: </strong>A 71-year-old woman experienced cortical blindness after percutaneous vertebroplast. She developed dizziness, nausea, sweating, blood pressure changes, and vision loss during the procedure. MRI confirmed bilateral cerebral infarctions. The patient recovered with conservative treatment.</p><p><strong>Conclusions: </strong>Percutaneous vertebroplasty, though helpful, carries a rare risk of cortical blindness. Surgeon awareness is crucial for informing patients of this potential complication.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"99-102"},"PeriodicalIF":0.6,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140868601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Numerous treatment options are being studied for Alzheimer's disease (AD) given the rising prevalence of this condition worldwide. Transcranial Magnetic Stimulation (TMS) is a promising option for regulating specific neurological abnormalities pertaining to this condition. This case presents a patient with AD and co-occurring major depressive disorder that received 36 sessions of Deep TMS to the frontal and temporal lobes. This patient experienced improved general cognitive functioning and memory, remission from depression, and reduced slow-frequency theta activity in frontal and temporal sites. Following 7 months of weekly maintenance, additional improvements occurred. This report suggests that Deep TMS may be effective in mitigating AD symptoms, and maintenance sessions are advisable.
{"title":"The effects of deep transcranial magnetic stimulation on Alzheimer's disease: a case report examining cognitive functioning, memory, and QEEG.","authors":"Nathaniel A Shanok, Sabrina Muzac, Brittany Derbin, Enis Cabeza, Raul Rodriguez","doi":"10.1080/13554794.2024.2346987","DOIUrl":"10.1080/13554794.2024.2346987","url":null,"abstract":"<p><p>Numerous treatment options are being studied for Alzheimer's disease (AD) given the rising prevalence of this condition worldwide. Transcranial Magnetic Stimulation (TMS) is a promising option for regulating specific neurological abnormalities pertaining to this condition. This case presents a patient with AD and co-occurring major depressive disorder that received 36 sessions of Deep TMS to the frontal and temporal lobes. This patient experienced improved general cognitive functioning and memory, remission from depression, and reduced slow-frequency theta activity in frontal and temporal sites. Following 7 months of weekly maintenance, additional improvements occurred. This report suggests that Deep TMS may be effective in mitigating AD symptoms, and maintenance sessions are advisable.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"81-86"},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140866945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-01Epub Date: 2024-05-03DOI: 10.1080/13554794.2024.2346365
Rafail A Chionatos, David P Lerner, Joseph D Burns, Anil Ramineni
We report a case of posterior reversible encephalopathy syndrome (PRES) during treatment for alcohol withdrawal syndrome with gabapentin and clonidine. The patient developed severe hypertension, confusion and tremor, culminating in bilateral vision loss and a seizure. Imaging revealed posterior cerebral edema. Treatment with benzodiazepines, antihypertensives, and anti-seizure medications led to resolution. One year later, imaging showed resolution of the findings. We review the associated literature and propose the recognition of a PRES sub-entity, Alcohol-Related PRES (ARPRES), which can appear in the setting of alcohol withdrawal syndrome, chronic alcohol use, and acute alcohol intoxication, with or without hypertension.
{"title":"Alcohol-related posterior reversible encephalopathy syndrome: a case report of a patient managed with a benzodiazepine-sparing regimen for alcohol withdrawal.","authors":"Rafail A Chionatos, David P Lerner, Joseph D Burns, Anil Ramineni","doi":"10.1080/13554794.2024.2346365","DOIUrl":"10.1080/13554794.2024.2346365","url":null,"abstract":"<p><p>We report a case of posterior reversible encephalopathy syndrome (PRES) during treatment for alcohol withdrawal syndrome with gabapentin and clonidine. The patient developed severe hypertension, confusion and tremor, culminating in bilateral vision loss and a seizure. Imaging revealed posterior cerebral edema. Treatment with benzodiazepines, antihypertensives, and anti-seizure medications led to resolution. One year later, imaging showed resolution of the findings. We review the associated literature and propose the recognition of a PRES sub-entity, Alcohol-Related PRES (ARPRES), which can appear in the setting of alcohol withdrawal syndrome, chronic alcohol use, and acute alcohol intoxication, with or without hypertension.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"75-80"},"PeriodicalIF":0.6,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-01Epub Date: 2024-04-27DOI: 10.1080/13554794.2024.2345404
Burcak Yavuz, Emir Rusen, Tugce Duman, Berra Bas
In this study, Event-Related Potential (ERP) analyzes were performed to detect cognitive impairments in PD with Deep Brain Stimulation (DBS). A total of 85 volunteers underwent ERP analysis and neuropsychological testing (NPT) to determine cognitive level. In ERP analyses, prolonged latencies were observed in PD groups. However, patients implanted with DBS showed a decrease in latencies, a decrease in symptoms and statistical improvements in both cognitive and attention skills. Considering all these data, ERP results are promising as a noninvasive method that can be used in both disease status and diagnosis of PD.
{"title":"Developments of possible clinical diagnostic methods for parkinson's disease: event-related potentials.","authors":"Burcak Yavuz, Emir Rusen, Tugce Duman, Berra Bas","doi":"10.1080/13554794.2024.2345404","DOIUrl":"10.1080/13554794.2024.2345404","url":null,"abstract":"<p><p>In this study, Event-Related Potential (ERP) analyzes were performed to detect cognitive impairments in PD with Deep Brain Stimulation (DBS). A total of 85 volunteers underwent ERP analysis and neuropsychological testing (NPT) to determine cognitive level. In ERP analyses, prolonged latencies were observed in PD groups. However, patients implanted with DBS showed a decrease in latencies, a decrease in symptoms and statistical improvements in both cognitive and attention skills. Considering all these data, ERP results are promising as a noninvasive method that can be used in both disease status and diagnosis of PD.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"67-74"},"PeriodicalIF":0.8,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140858785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-01Epub Date: 2024-04-27DOI: 10.1080/13554794.2024.2347606
Vinay Mandagere, Dane Rayment
Cataplexy is the sudden loss of muscle tone often provoked by emotion such as laughter or excitement. Cataplexy is one of the essential diagnostic features of Narcolepsy type 1 (NT1). We describe two cases of isolated cataplexy with different outcomes, highlighting the diagnostic and prognostic challenges. There is conflicting literature as to whether it is a legitimate standalone diagnosis or an early warning sign of narcolepsy. Our cases do not fit with current diagnostic criteria for narcolepsy, yet still share some clinical or laboratory features. These ambiguous cases question what the mechanistic relationship between narcolepsy and cataplexy may be.
{"title":"Atypical isolated cataplexy: two case reports and a mini-review.","authors":"Vinay Mandagere, Dane Rayment","doi":"10.1080/13554794.2024.2347606","DOIUrl":"10.1080/13554794.2024.2347606","url":null,"abstract":"<p><p>Cataplexy is the sudden loss of muscle tone often provoked by emotion such as laughter or excitement. Cataplexy is one of the essential diagnostic features of Narcolepsy type 1 (NT1). We describe two cases of isolated cataplexy with different outcomes, highlighting the diagnostic and prognostic challenges. There is conflicting literature as to whether it is a legitimate standalone diagnosis or an early warning sign of narcolepsy. Our cases do not fit with current diagnostic criteria for narcolepsy, yet still share some clinical or laboratory features. These ambiguous cases question what the mechanistic relationship between narcolepsy and cataplexy may be.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"87-89"},"PeriodicalIF":0.8,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140860905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-06-01Epub Date: 2024-04-30DOI: 10.1080/13554794.2024.2346990
Sudarshan Krishnamurthy, William Harrison, Suzanne Craft, Samuel N Lockhart, James R Bateman
Alzheimer's Disease (AD) is the most common cause of dementia, although multiple pathologies are found in nearly half of the cases with clinically diagnosed AD. Prion diseases, such as Creutzfeldt-Jakob disease (CJD), are rare causes of dementia and typically manifest as a rapidly progressive dementia, where symptom onset to dementia most often occurs over the course of months. In this brief report, we describe a patient's typically progressive dementia with a precipitous decline at the end of their life who, on neuropathological evaluation, was found to have multiple neurodegenerative proteinopathies as well as spongiform encephalopathy due to CJD. This case of unsuspected CJD highlights a rare, but epidemiologically important, cause of sudden decline in well-established neurodegenerative dementias.
{"title":"When prion disease Isn't suspected: prion disease as the cause of terminal decline in chronic mixed dementia.","authors":"Sudarshan Krishnamurthy, William Harrison, Suzanne Craft, Samuel N Lockhart, James R Bateman","doi":"10.1080/13554794.2024.2346990","DOIUrl":"10.1080/13554794.2024.2346990","url":null,"abstract":"<p><p>Alzheimer's Disease (AD) is the most common cause of dementia, although multiple pathologies are found in nearly half of the cases with clinically diagnosed AD. Prion diseases, such as Creutzfeldt-Jakob disease (CJD), are rare causes of dementia and typically manifest as a rapidly progressive dementia, where symptom onset to dementia most often occurs over the course of months. In this brief report, we describe a patient's typically progressive dementia with a precipitous decline at the end of their life who, on neuropathological evaluation, was found to have multiple neurodegenerative proteinopathies as well as spongiform encephalopathy due to CJD. This case of unsuspected CJD highlights a rare, but epidemiologically important, cause of sudden decline in well-established neurodegenerative dementias.</p>","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"92-97"},"PeriodicalIF":0.8,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11145467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140858786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}