Neurocase最新文献_第2页

Amusia representing impairment of absolute pitch perception due to damage to the middle longitudinal fasciculus: a case report. 失音症表现绝对音高知觉因中纵束损伤而受损：1例报告。

IF 0.6 4区医学

Neurocase Pub Date : 2025-07-22 DOI: 10.1080/13554794.2025.2531804

Masayuki Satoh

{"title":"Amusia representing impairment of absolute pitch perception due to damage to the middle longitudinal fasciculus: a case report.","authors":"Masayuki Satoh","doi":"10.1080/13554794.2025.2531804","DOIUrl":"https://doi.org/10.1080/13554794.2025.2531804","url":null,"abstract":"Absolute pitch (AP) is the ability to identify the pitch of isolated tones without reference to an external pitch. A 21-year-old semi-professional musician with a previous ability for AP developed a left-hemispheric cerebral hemorrhage due to an arteriovenous malformation (AVM). One month after the hemorrhage, she underwent surgery to treat the AVM, resulting in the resolution of her aphasia and right upper limb clumsiness. However, her AP ability was lost. Before the hemorrhage, she could dictate complex music that she listened to, but afterward, she could no longer identify even a single tone. Neuropsychological assessments revealed a decreased retention span for auditory information, slight impairment of environmental sound and speech processing, and difficulty in understanding the auditory presentation of numbers with more than four digits. Neuromusicological assessments with an established battery of tests revealed impairments of chord and timbre perception, alongside the loss of AP ability. Brain computed tomography conducted 9 months after the hemorrhage revealed low-density areas in the middle longitudinal fasciculus, a region associated with language and auditory processing, including AP perception. To our knowledge, this is the first reported case of a patient with AP loss because of a focal brain lesion.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-12"},"PeriodicalIF":0.6,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692210","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}

引用次数: 0

Fahr's disease presenting with psychotic symptoms at onset in an adolescent: a case report. 青少年Fahr病发病时表现为精神症状：1例报告

IF 0.6 4区医学

Neurocase Pub Date : 2025-06-23 DOI: 10.1080/13554794.2025.2522642

JianFeng Liu, Jie Jia, TingTing Hao, Jing Ding

{"title":"Fahr's disease presenting with psychotic symptoms at onset in an adolescent: a case report.","authors":"JianFeng Liu, Jie Jia, TingTing Hao, Jing Ding","doi":"10.1080/13554794.2025.2522642","DOIUrl":"https://doi.org/10.1080/13554794.2025.2522642","url":null,"abstract":"Fahr's disease (FD) is a rare neurological disorder that causes abnormal, symmetrical, and bilateral calcification of the basal ganglia and other brain regions. Psychiatric symptoms are one of the many manifestations that guide FD diagnosis, with most usually occurring by ages 30-60 years. Herein, we report an incidental finding of bilateral basal ganglia calcification in a 14-year-old male teenager presenting psychotic characteristics, including schizophreniform and manic-like symptoms, who was initially investigated for mycoplasma infection. No similar study has been reported so far in the literature. Case report and literature review. Computed tomography (CT) revealed a calcification deposit in bilateral basal ganglia, thalamus, frontal cortex, and semioval center, magnetic resonance imaging detected a T1-weighted image and fluid-attenuated inversion recovery hyperintense signal abnormalities in the bilateral basal ganglia and thalami. Furthermore, the laboratory tests revealed no obvious abnormality except for hypocalcemia and low vitamin D levels with an elevated uric acid level. The gene test results confirmed the diagnosis of familial FD, which was caused by a mutation in the SLC20A2 gene (NM_001257180.2:c.551delC/p.Pro184Glnfs *8). The patient was prescribed oral medication, including olanzapine, sodium valproate extended-release tablets, lorazepam, and vitamin D drops. Additionally, individualized administration with therapeutic drug monitoring was recommended for the patient to enable dose adjustments. The patient experienced no new psychotic symptoms within the 6-month follow-up after discharge. Bilateral basal ganglia calcification may be a contributing factor to the sudden onset of psychiatric symptoms in children and adolescents.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-7"},"PeriodicalIF":0.6,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144477578","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}

引用次数: 0

Adolescent-onset hyperhomocysteinaemia: cases report and literature review. 青少年高同型半胱氨酸血症：病例报告及文献复习。

IF 0.6 4区医学

Neurocase Pub Date : 2025-04-16 DOI: 10.1080/13554794.2025.2489928

Yulong Li, Lan Wang, Limin Yu, Xinyuan Miao, Lingyuhao Zhang, Shaoyang Sun, Chong Wang, Yanping Sun

{"title":"Adolescent-onset hyperhomocysteinaemia: cases report and literature review.","authors":"Yulong Li, Lan Wang, Limin Yu, Xinyuan Miao, Lingyuhao Zhang, Shaoyang Sun, Chong Wang, Yanping Sun","doi":"10.1080/13554794.2025.2489928","DOIUrl":"https://doi.org/10.1080/13554794.2025.2489928","url":null,"abstract":"We summarize and review the clinical and genetic characteristics of four adolescents with Hyperhomocysteinemia. Four cases of adolescent-onset Hyperhomocysteinemia diagnosed at Qingdao University Affiliated Hospital were selected as research subjects. Clinical data, whole exome sequencing and Sanger sequencing information of the patients were collected, and gene variation analysis and literature review were conducted. The pathogenic variants carried by the four patients were MAT1A c.895C>T(p.Arg299Cys), CBS c.374G>A(p.Arg125Glu), CBS c.785C>T(p.Thr262Met), and MMACHC c.482G>A(p.Arg161Glu) and c.658_660del(p.Lys220del) along with other site mutations. There were three cases with epileptic seizures as initial manifestation, three cases with varying degrees of intellectual disability, two cases with lens dislocation, one case with cervical artery occlusion leading to cerebral infarction, and one case with extensive white matter lesions. Four patients showed relief of symptoms after treatment with vitamin B and necessary antiepileptic drugs. We combined the cases and relevant literature to retrospectively analyze the characteristics and treatment related to the disease. The onset of Hyperhomocysteinemia in adolescents is early, and the clinical manifestations are broad and atypical. At the same time, it has a significant impact on the growth and development of adolescents and can affect future life for a long time. Early detection and diagnosis have an important impact on prognosis.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-9"},"PeriodicalIF":0.6,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056600","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}

引用次数: 0

Electroconvulsive therapy ameliorates treatment-resistant depression in patient with Lewy body dementia. 电休克疗法改善路易体痴呆患者的难治性抑郁症。

IF 0.6 4区医学

Neurocase Pub Date : 2025-04-12 DOI: 10.1080/13554794.2025.2490785

Yavuz Sultan Selim Akgul, Murat Gultekin, Saliha Demirel Ozsoy

引用次数: 0

Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP). 主要是右侧颞叶和额叶脑萎缩和进行性行为痴呆。朊病毒基因突变1例。

IF 0.6 4区医学

Neurocase Pub Date : 2025-04-12 DOI: 10.1080/13554794.2025.2491746

Evangelos Koumasopoulos, Evangelia Stanitsa, Efthalia Angelopoulou, Christos Koros, Vasiliki Barbarousi, Georgios Velonakis, Athanasios Koulouris, Chrysoula Michaletou, Savvas Konstantinos Alevetsovitis, Vasilios C Constantinides, Andreas Kyrozis, Leonidas Stefanis, Christos Kroupis, Sokratis G Papageorgiou

{"title":"Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP).","authors":"Evangelos Koumasopoulos, Evangelia Stanitsa, Efthalia Angelopoulou, Christos Koros, Vasiliki Barbarousi, Georgios Velonakis, Athanasios Koulouris, Chrysoula Michaletou, Savvas Konstantinos Alevetsovitis, Vasilios C Constantinides, Andreas Kyrozis, Leonidas Stefanis, Christos Kroupis, Sokratis G Papageorgiou","doi":"10.1080/13554794.2025.2491746","DOIUrl":"https://doi.org/10.1080/13554794.2025.2491746","url":null,"abstract":"Introduction: Frontotemporal dementia (FTD) is a rare and often hereditary type of dementia, usually developing under the age of 65 years. Mutations in the gene encoding the prion protein (PRNP), typically resulting in Creutzfeldt-Jakob disease, are an extremely rare cause of FTD phenotype. The clinical spectrum of this genetic form of FTD has not been fully elucidated, and no case carrying a PRNP gene mutation has been previously described in the Greek population.Case report: This case report describes a patient with phenotype of probable behavioral variant frontotemporal dementia (bvFTD) with positive family history of dementia.A mutation in the prion gene (PRNP) is identified as the genetic cause of the behavioral FTD phenotype of the patient.Conclusion: Heterozygous c.623G>A (p.Arg208His) genotype may be responsible for FTD phenotype. This case shows the necessity of genetic testing for possible mutations in the prion gene in patients with bvFTD and positive family history of dementia.","PeriodicalId":49762,"journal":{"name":"Neurocase","volume":" ","pages":"1-6"},"PeriodicalIF":0.6,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051793","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}

引用次数: 0

Correction. 更正。

IF 0.6 4区医学

Neurocase Pub Date : 2025-04-01 Epub Date: 2024-12-13 DOI: 10.1080/13554794.2024.2442138

引用次数: 0

Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report. 额颞叶痴呆p62/SQSTM1杂合突变与右侧颞叶变异：Α病例报告。

IF 0.6 4区医学

Neurocase Pub Date : 2025-04-01 Epub Date: 2024-12-24 DOI: 10.1080/13554794.2024.2446315

Evangelos Koumasopoulos, Evangelia Stanitsa, Efthalia Angelopoulou, Christos Koros, Vasiliki Barbarousi, Georgios Velonakis, Chrysoula Michaletou, Savvas Konstantinos Alevetsovitis, Vasilios C Constantinides, Andreas Kyrozis, Leonidas Stefanis, Christos Kroupis, Sokratis G Papageorgiou

引用次数: 0

Unforeseen hazards: cranial penetration with a metallic chopstick in a suicide attempt. 不可预见的危险：企图自杀时被金属筷子刺穿颅骨。

IF 0.6 4区医学

Neurocase Pub Date : 2025-04-01 Epub Date: 2024-12-18 DOI: 10.1080/13554794.2024.2443995

Chia-Lo Wu, Yao-Chung Yang, Yu-Hone Hsu

引用次数: 0

A case of developmental topographical disorientation: impact on diagnostic trajectory and everyday life. 发育性地形定向障碍一例：对诊断轨迹和日常生活的影响。

IF 0.6 4区医学

Neurocase Pub Date : 2025-04-01 Epub Date: 2025-01-07 DOI: 10.1080/13554794.2024.2442552

Ineke J M van der Ham, Michiel H G Claessen

引用次数: 0

Double dissociation between lexical decision and comprehension in a Japanese patient with semantic dementia: based on the characteristic processing of Kanji. 日语语义性痴呆患者词汇决策与理解的双重分离：基于汉字特征加工的研究。