Case Reports in Neurological Medicine最新文献_第7页

Presenilin-1 C779T Mutation Presenting With Rapidly Progressive Dementia and Medial Temporal Lobe MRI Changes. 早老素-1 C779T突变表现为快速进展性痴呆和内侧颞叶MRI改变。

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Case Reports in Neurological Medicine Pub Date : 2025-11-14 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/8251065

Marco Toccaceli Blasi, Maria Sole Borioni, Filippo Nuti, Daniele Belvisi, Marco Canevelli, Giovanni Fabbrini, Giuseppe Bruno

{"title":"Presenilin-1 C779T Mutation Presenting With Rapidly Progressive Dementia and Medial Temporal Lobe MRI Changes.","authors":"Marco Toccaceli Blasi, Maria Sole Borioni, Filippo Nuti, Daniele Belvisi, Marco Canevelli, Giovanni Fabbrini, Giuseppe Bruno","doi":"10.1155/crnm/8251065","DOIUrl":"10.1155/crnm/8251065","url":null,"abstract":"Introduction: Autosomal dominant Alzheimer's disease (ADAD), especially due to presenilin-1 (PSEN-1) gene mutations, may display a broad spectrum of clinical manifestations and neuroradiological findings. Occasionally, these manifestations may be rare and atypical, challenging the clinician's ability to recognize the disease. The description of the clinical characteristics and neuroradiological remarks of patients with specific mutations may improve clinicians' ability to identify them.Case presentation: We report the case of a woman who presented with early-onset, rapidly progressive dementia associated with bilateral hyperintensity of the medial temporal lobe on T2-weighted MRI. After more common etiologies were excluded, genetic testing revealed a PSEN-1 C779T mutation. Notably, her brother, who carried the same mutation, did not exhibit these atypical neuroradiological findings.Conclusions: This case underscores the phenotypic variability associated with PSEN-1 mutations, even among individuals within the same family. Such variability and the possibility of atypical presentations may complicate the diagnostic process. In the presence of early-onset and rapidly progressive dementia associated with bilateral hyperintensity of the medial temporal lobe, ADAD and PSEN-1 mutation may be suspected and need to be addressed.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"8251065"},"PeriodicalIF":0.9,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12638162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Perimesencephalic Hemorrhagic-Pontine Infarction Syndrome: Miler Fisher's Hint to Subarachnoid Paramedian Artery Rupture-A Case Report. 脑周围出血性脑桥梗死综合征：miller Fisher提示蛛网膜下腔旁动脉破裂1例报告。

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Case Reports in Neurological Medicine Pub Date : 2025-11-14 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/3384633

R Targa Martins, C Oliveira

{"title":"Perimesencephalic Hemorrhagic-Pontine Infarction Syndrome: Miler Fisher's Hint to Subarachnoid Paramedian Artery Rupture-A Case Report.","authors":"R Targa Martins, C Oliveira","doi":"10.1155/crnm/3384633","DOIUrl":"10.1155/crnm/3384633","url":null,"abstract":"We report a 73-year-old man transferred for evaluation of suspected aneurysmal subarachnoid hemorrhage after his first-ever thunderclap headache episode. It was noted on the second day of the disease left hemiparesis. On MRI, the hemorrhage was of the perimesencephalic type and was associated with an early right paramedian pontine infarction. Angiography did not reveal an aneurismal source for the bleeding, arterial dissection, nor vertebrobasilar vasospasm. Synchronic pontine infarction with perimesencephalic hemorrhage is an unusual syndrome ascribed to the rupture of a perforator superficial arterial segment, as described by Hochberg and Miller Fisher in a case report with autopsy. The absence of a bleeding source for subarachnoid hemorrhage and the presence of ischemic paramedian pontine perforator reinforce the role of artery rupture in the etiology of this case in particular but also as the main cause of concomitant hemorrhagic-ischemic brainstem syndrome. The patient had a satisfactory recovery and was treated with antiplatelet therapy, statins, and rehabilitation. Paramedian pontine infarction and perimesencephalic hemorrhage should be considered a concomitant hemorrhagic-ischemic syndrome suggesting basilar perforator rupture as the etiologic mechanism of the stroke, although rare.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"3384633"},"PeriodicalIF":0.9,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12638149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cerebral Vasospasm as a Delayed Complication Following Glioblastoma Resection. 脑血管痉挛是胶质母细胞瘤切除术后的延迟并发症。

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Case Reports in Neurological Medicine Pub Date : 2025-11-14 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/8872074

Andrew C Pickles, John T Tsiang, Shiau-Sing Ciecierska, Ronak H Jani, Joseph C Serrone, Brandon J Bond, Jigisha P Thakkar, Vikram C Prabhu

{"title":"Cerebral Vasospasm as a Delayed Complication Following Glioblastoma Resection.","authors":"Andrew C Pickles, John T Tsiang, Shiau-Sing Ciecierska, Ronak H Jani, Joseph C Serrone, Brandon J Bond, Jigisha P Thakkar, Vikram C Prabhu","doi":"10.1155/crnm/8872074","DOIUrl":"10.1155/crnm/8872074","url":null,"abstract":"Postoperative cerebral vasospasm is usually triggered by vasoactive metabolic blood products in the subarachnoid space but is rarely reported following resection of intrinsic diffuse lobar neoplasms such as malignant gliomas. This 34-year-old right-handed Caucasian lady underwent an uneventful resection of a right mesial temporal lobe glioblastoma with no postoperative neurological deficits. Eight days after her index surgery, she presented with left-sided hemiparesis and dysarthria and was found to have right M1 narrowing, consistent with cerebral vasospasm. Intra-arterial calcium channel blocker (CCB) administration and induced hypertension were started to treat the cerebral vasospasm and resulted in resolution of most of her neurological deficits. At 2 months postresection, she was noted to be without neurological deficits and able to proceed with appropriate adjuvant therapies for the glioblastoma. Postoperative cerebral vasospasm following resection of a glioblastoma can occur and present in a similar manner and timeframe as post-subarachnoid hemorrhage vasospasm. Prompt recognition of this condition followed by endovascular intervention and systemic treatments to improve cerebral perfusion are essential at reducing the risk of permanent cerebral ischemia and deficits.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"8872074"},"PeriodicalIF":0.9,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12638147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145586149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult. 揭露MEGF10肌病：年轻人突发性呼吸衰竭的罕见原因。

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Case Reports in Neurological Medicine Pub Date : 2025-11-11 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/6904563

Benedict Kleiser, Luise Hackenbruch, Jens Schittenhelm, Antje Bornemann, Tobias Haack, Alexander Grimm, Pascal Martin

{"title":"Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult.","authors":"Benedict Kleiser, Luise Hackenbruch, Jens Schittenhelm, Antje Bornemann, Tobias Haack, Alexander Grimm, Pascal Martin","doi":"10.1155/crnm/6904563","DOIUrl":"10.1155/crnm/6904563","url":null,"abstract":"Sudden respiratory insufficiency is commonly attributed to cardiopulmonary causes but may also herald underlying neuromuscular disorders. In this context, rare diseases in particular pose significant diagnostic challenges. Here, we report on a 27-year-old woman who presented with unexplained respiratory insufficiency, proximal muscle pain, and weakness. Initially, she was found unconscious with severe hypoxemia (oxygen saturation 41%), low respiratory rate (4/min), and hypotension, requiring emergency intubation. After treatment for pneumonia, persistent hypercapnia and hypoxemia were noted. Two months later, she reported muscle pain, reduced strength when climbing stairs, and swallowing difficulties. Physical examination showed symmetrical proximal paresis in arms and legs (MRC 4/5), dependence on hand support for head lifting, and inability to rise from a squat unaided. Reflexes were symmetrically reduced. There were no signs of myotonia. Medical history included kyphoscoliosis; family history was noncontributory for muscular disorders. In this case, we provide guidance on navigating the multiplicity of neuromuscular differential diagnoses in case of respiratory failure in combination with peripheral weakness, leading to the final diagnose of MEGF10 myopathy in this case.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"6904563"},"PeriodicalIF":0.9,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12626692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145556353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pachymeningitis With Dural Vessel Dilatation in MOG Antibody-Associated Disease: A Case Report. MOG抗体相关疾病伴硬脑膜血管扩张的厚膜脑膜炎1例报告

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Case Reports in Neurological Medicine Pub Date : 2025-11-11 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/5686302

Yunchen Huang, Yafei Song, Ding Liu, Yin Liu

引用次数: 0

An Atypical Presentation of Sporadic Creutzfeldt-Jakob Disease in the Setting of Chronic Alcohol Use Disorder. 慢性酒精使用障碍患者散发性克雅氏病的不典型表现

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Case Reports in Neurological Medicine Pub Date : 2025-10-29 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/1332654

Coral Holt, Alia T Sadek, Jordan Woodard, Rhett Grinstead

{"title":"An Atypical Presentation of Sporadic Creutzfeldt-Jakob Disease in the Setting of Chronic Alcohol Use Disorder.","authors":"Coral Holt, Alia T Sadek, Jordan Woodard, Rhett Grinstead","doi":"10.1155/crnm/1332654","DOIUrl":"10.1155/crnm/1332654","url":null,"abstract":"Sporadic Creutzfeldt-Jakob disease (CJD) is a rare but universally fatal condition with cardinal symptoms of rapidly progressive dementia and myoclonus. Wernicke encephalopathy (WE) is a reversible condition often presenting with the triad of altered mental status, ophthalmoplegia, and ataxia. Previous case reports have demonstrated overlap in the clinical features, imaging, and laboratory testing of CJD and WE. Here, we present the case of a 60-year-old female who presented with prominent aphasia and ataxia, lacking myoclonus and specific electroencephalogram (EEG) findings of CJD. Our patient's presentation was initially most suspicious for WE in the setting of alcohol use disorder, though maintaining a broad differential prompted extensive workup. Brain magnetic resonance imaging (MRI) was a key factor in distinguishing this case, as there were no lesions in the thalami, mammillary bodies, or periaqueductal gray matter, areas strongly associated with WE. Cerebrospinal fluid (CSF) testing for RT-QuIC, T-Tau protein and 14-3-3 GAMMA, and ultimately autopsy confirmed the diagnosis of sporadic CJD. We compare the clinical features, MRI, and EEG findings of our patient to those of similar cases, recognizing common areas of involvement that are also affected in WE. This case brings further attention to the variable presentation and clinical overlap of CJD with other neuropsychiatric diseases. We therefore endorse strong recommendations for maintaining a broad differential in patients presenting with nonspecific neurological complaints and promptly evaluating with MRI to better localize the affected areas.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"1332654"},"PeriodicalIF":0.9,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145457687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Discoblock-Associated Subarachnoid Hemorrhage: A Case Report. 蛛网膜下腔出血1例报告。

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Case Reports in Neurological Medicine Pub Date : 2025-10-28 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/5167713

Ahmed M Sonbol, Abdel Fattah Ewais, Farid Kassab, Khalid Mohammed Ali Khalid, Mohammed Awad A Mohammed, Hassan Sirajaldeen Alhassan Ali, Mohammed M Elgack

{"title":"Discoblock-Associated Subarachnoid Hemorrhage: A Case Report.","authors":"Ahmed M Sonbol, Abdel Fattah Ewais, Farid Kassab, Khalid Mohammed Ali Khalid, Mohammed Awad A Mohammed, Hassan Sirajaldeen Alhassan Ali, Mohammed M Elgack","doi":"10.1155/crnm/5167713","DOIUrl":"10.1155/crnm/5167713","url":null,"abstract":"The discoblock procedure entails the administration of an anesthetic agent during discography to pinpoint the origin of spinal pain in challenging diagnostic scenarios. Known for its minimal complication rate, the most frequently documented adverse effect is discitis. This case report introduces a novel observation of subarachnoid hemorrhage following a discoblock procedure. Initially presenting with persistent lower back pain, the patient exhibited dehydrated lumbar discs on imaging, characterized by altered T2 signal intensity and a diffuse disc bulge impacting the anterior thecal sac at the L4-5 level, alongside degenerative scoliosis at L2-3. These findings suggested the potential origins of symptoms at L4-5 or L2-3, leading to the decision to proceed with L4-5 discoblock. Symptom alleviation postdiscoblock, coupled with prophylactic cefazolin administration, indicated the necessity for further management at the L4-5 disc level. Subsequently, the patient presented with status epilepticus 9 hours later, with brain magnetic resonance imaging revealing anomalous hyperintensities in the left temporoparietal sulci and the left ambient cistern, prompting suspicion of subarachnoid hemorrhage. This study elucidates the procedural indications for discoblock, explores potential factors contributing to complications, and delves into the safety considerations surrounding this intervention.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"5167713"},"PeriodicalIF":0.9,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12585860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145451072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. 运动神经元疾病中RYR 1基因突变：10年病例观察

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Case Reports in Neurological Medicine Pub Date : 2025-10-23 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/6050078

Andreas Posa, Malte Kornhuber

{"title":"RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation.","authors":"Andreas Posa, Malte Kornhuber","doi":"10.1155/crnm/6050078","DOIUrl":"10.1155/crnm/6050078","url":null,"abstract":"Motor neuron diseases (MND) are a group of rare, often severe, and life-limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression. The Department of Neurology at Martin Luther University Halle (Germany) followed a male patient with slowly progressive muscle loss, muscle weakness, and muscle pain in the proximal upper arm and shoulder muscles over a period of 10 years and collected clinical, electrophysiological, neuroradiological, laboratory, and genetic data. Clinical neurological and electrophysiological diagnostics clearly indicated MND. A detailed genetic analysis resulted in the first description of an in-frame mutation (heterozygous, c.5691_5693delGGA) in the RYR1 gene (ryanodine receptor 1), which is unknown in MND or RYR1-related neuromuscular disorders. Mutations in RYR1 are associated with various motor disabilities due to muscle weakness. The specific role of RYR1 mutations in the genetic pathogenesis of MND has never been described before and is currently unknown. This case is the first of its kind demonstrating a RYR1 mutation in MND, broadening the spectrum of pathogenetic causes of MND.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"6050078"},"PeriodicalIF":0.9,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12575013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Onset of Creutzfeldt-Jakob Disease After COVID-19: Navigating the Diagnostic Challenges and Clinical Evolution. COVID-19后克雅氏病的发病：导航诊断挑战和临床演变

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Case Reports in Neurological Medicine Pub Date : 2025-10-23 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/6617766

Ahmet Z Burakgazi

{"title":"The Onset of Creutzfeldt-Jakob Disease After COVID-19: Navigating the Diagnostic Challenges and Clinical Evolution.","authors":"Ahmet Z Burakgazi","doi":"10.1155/crnm/6617766","DOIUrl":"10.1155/crnm/6617766","url":null,"abstract":"This case report presents a 47-year-old female who developed Creutzfeldt-Jakob disease (CJD) in a patient who had recently experienced a COVID-19 infection. The patient initially experienced speech changes and cognitive decline approximately 4-5 weeks after recovering from COVID-19. Over the course of several months, her condition rapidly deteriorated, progressing to severe neurocognitive decline, including catatonia, aggression, and delusions. Diagnostic findings included cortical ribboning on MRI, generalized periodic discharges on EEG, and elevated tau and 14-3-3 proteins with positive RT-QuIC in CSF analysis. Despite various treatments, including methylprednisolone and IVIG, the patient's condition worsened, leading to hospice care within a year of symptom onset. This case illustrates the diagnostic challenges in distinguishing prion diseases from other postviral complications, particularly when presuming a parainfectious inflammatory process without supporting evidence, which may delay definitive testing such as RT-QuIC. No causal relationship between COVID-19 and CJD can be established from this single case. This report underlines the need for further research into potential post-COVID-19 neurological complications.","PeriodicalId":9615,"journal":{"name":"Case Reports in Neurological Medicine","volume":"2025 ","pages":"6617766"},"PeriodicalIF":0.9,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12575042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report. 以癫痫为首发症状的急性间歇性卟啉症及后路可逆性脑病综合征1例报告。

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Case Reports in Neurological Medicine Pub Date : 2025-10-23 eCollection Date: 2025-01-01 DOI: 10.1155/crnm/5596570

Wei Li, Zhi-Yun Lian, Xiu-Juan Mi, Jun Tang

引用次数: 0