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[A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment]. [一例被诊断为伴有不自主运动的 L-2-羟基戊二酸尿症患者，经治疗后运动症状得到改善]。
Clinical Neurology Pub Date : 2025-02-21 Epub Date: 2025-01-29 DOI: 10.5692/clinicalneurol.cn-002026
Masaya Shimozato, Takeo Sakurai, Tomonori Yaguchi, Takayoshi Shimohata, Hiroshi Nishida
{"title":"[A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment].","authors":"Masaya Shimozato, Takeo Sakurai, Tomonori Yaguchi, Takayoshi Shimohata, Hiroshi Nishida","doi":"10.5692/clinicalneurol.cn-002026","DOIUrl":"10.5692/clinicalneurol.cn-002026","url":null,"abstract":"<p><p>A 49-year-old female presented with the primary complaint of hand tremors. Neurological examination on admission revealed signs of cognitive impairment, bulbar palsy, dystonia, cerebellar ataxia, and pyramidal tract disease. T<sub>2</sub>-weighted brain MRI revealed hyperintense signals in the subcortical white matter, basal ganglia, and cerebellar dentate nucleus, with no atrophy of the brainstem or corpus callosum. Urinary organic acid analysis revealed elevated 2-hydroxyglutaric acid levels. Although the optical isomers could not be distinguished, L-2-hydroxyglutaric aciduria was diagnosed based on the disease course, symptoms, and characteristic MRI findings. The patient was started on riboflavin-enriched compounds and levocarnitine, resulting in an improvement in the Scale for the Assessment and Rating of Ataxia (SARA) score from 21 to 15 after six months. The case suggests that symptoms in adult patients who have not been treated for a long time can be improved by appropriate diagnosis based on neurological presentation, characteristic MRI findings, and intervention.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"132-138"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[How to make effective figures in case reports].
Clinical Neurology Pub Date : 2025-02-21 Epub Date: 2025-01-29 DOI: 10.5692/clinicalneurol.cn-002044
Akiyuki Hiraga
{"title":"[How to make effective figures in case reports].","authors":"Akiyuki Hiraga","doi":"10.5692/clinicalneurol.cn-002044","DOIUrl":"10.5692/clinicalneurol.cn-002044","url":null,"abstract":"<p><p>Figures are essential components of case reports, often conveying information more effectively than the text. Common figure types include images, pathology slides, photographs, schematic drawings, and clinical courses. Each figure type should follow four design principles: alignment, repetition, proximity, and contrast. Precise \"alignment\" of elements and \"repetition\" with font usage are crucial for improving clarity. Employing \"contrast,\" such as arrows to highlight specific areas, can also significantly improve visual impact. Additionally, enlarged views or detailed schematics can be beneficial in certain cases. Creating figures early in the process can boost your motivation to write case reports. The enjoyment of writing case reports lies in discovering the key learning points of the case and summarising them. Additionally, creating figures for your case can be enjoyable.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"150-156"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[A case of diagnosed pernicious anemia and subacute combined degeneration of the spinal cord with abnormally elevated serum vitamin B12]. [一例确诊为恶性贫血和脊髓亚急性联合变性且血清维生素 B12 异常升高的病例]。
Clinical Neurology Pub Date : 2025-02-21 Epub Date: 2025-01-29 DOI: 10.5692/clinicalneurol.cn-002023
Kazuaki Hirakata, Yoshito Ishii, Tamaki Yoshida, Fumiaki Tanaka, Yoshiharu Nakae
{"title":"[A case of diagnosed pernicious anemia and subacute combined degeneration of the spinal cord with abnormally elevated serum vitamin B12].","authors":"Kazuaki Hirakata, Yoshito Ishii, Tamaki Yoshida, Fumiaki Tanaka, Yoshiharu Nakae","doi":"10.5692/clinicalneurol.cn-002023","DOIUrl":"10.5692/clinicalneurol.cn-002023","url":null,"abstract":"<p><p>An 86-year-old male patient developed paresthesia in both hands, and six months later, pancytopenia was noted. He was diagnosed with myelodysplastic syndrome following bone marrow aspiration. Despite high serum vitamin B12 level, elevated level of serum homocysteine, positive anti-intrinsic factor antibody, and T<sub>2</sub>-weighted hyperintense lesions on spinal cord MRI led to a diagnosis of subacute combined degeneration of the spinal cord. Treatment with intramuscular mecobalamin injections improved the pancytopenia and resolved the MRI lesions. The pancytopenia in this patient was considered to be caused by pernicious anemia. The presence of anti-intrinsic factor antibody can cause falsely normal or elevated serum vitamin B12 levels. When patients with pancytopenia report numbness, even without a decrease in serum vitamin B12 levels, pernicious anemia and subacute combined degeneration of the spinal cord should be suspected, and measurements of serum homocysteine and anti-intrinsic factor antibodies should be considered.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"120-124"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Detection of brain MRI abnormalities before symptom onset in case of Creutzfeldt-Jakob disease with compound heterozygous PRNP mutation (V180I/M232R)].
Clinical Neurology Pub Date : 2025-02-21 Epub Date: 2025-01-29 DOI: 10.5692/clinicalneurol.cn-002025
Kyotaro Miura, Yoshitsugu Nakamura, Shoji Ogawa, Katsuya Satoh, Tetsuyuki Kitamoto, Shigeki Arawaka
{"title":"[Detection of brain MRI abnormalities before symptom onset in case of Creutzfeldt-Jakob disease with compound heterozygous PRNP mutation (V180I/M232R)].","authors":"Kyotaro Miura, Yoshitsugu Nakamura, Shoji Ogawa, Katsuya Satoh, Tetsuyuki Kitamoto, Shigeki Arawaka","doi":"10.5692/clinicalneurol.cn-002025","DOIUrl":"10.5692/clinicalneurol.cn-002025","url":null,"abstract":"<p><p>In an 81-year-old man, brain diffusion-weighted MRI revealed punctate high-intensity lesions in the bilateral frontal cortex. Three months later, these lesions had extended into the cerebral cortices. Six months after the original MRI, the patient developed cognitive decline. Clinically, he appeared to have Creutzfeldt-Jakob disease (CJD) based on brain MRI and cerebrospinal fluid examination findings. We identified a compound heterozygous mutation (V180I/M232R) in PRNP and diagnosed him with genetic CJD. This case of CJD with a compound heterozygous PRNP mutation had a relatively old onset, slowly progressive course, and low frequency of periodic synchronous discharges. Additionally, we detected CJD-associated brain MRI abnormalities before symptom onset. Reports of presymptomatic CJD such as the present case are important for the development of new therapeutic agents for CJD.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"125-131"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[An adult case of Dravet syndrome in which seizures worsened after discontinuation of lamotrigine and administration of stiripentol].
Clinical Neurology Pub Date : 2025-02-21 Epub Date: 2025-01-24 DOI: 10.5692/clinicalneurol.cn-002000
Shinji Itamura, Kasumi Sasaki, Rika Okano
{"title":"[An adult case of Dravet syndrome in which seizures worsened after discontinuation of lamotrigine and administration of stiripentol].","authors":"Shinji Itamura, Kasumi Sasaki, Rika Okano","doi":"10.5692/clinicalneurol.cn-002000","DOIUrl":"10.5692/clinicalneurol.cn-002000","url":null,"abstract":"<p><p>The patient was a 21-year-old female. She had frequently had status seizures when she had a fever or while taking a bath since she was 6 months old. At 1 year and 8 months old, she developed epilepsy. She was treated with multiple antiepileptic drugs, but her condition was intractable. At the age of 3, the patient suffered from acute encephalopathy, which was complicated by severe psychomotor developmental retardation. Tonic seizures continued to occur on a daily basis even after school age, but they did not worsen even during periods of fever, and the patient was not hospitalized until the age of 8. At the age of 19, the diagnosis was revised and Dravet syndrome was diagnosed. Lamotrigine, which had been taken at the time of diagnosis, was discontinued and stiripentol was administered, but the seizure frequency worsened. Because of the pathology of Dravet syndrome in adults may differ from that in children, care must be taken when selecting antiepileptic drugs.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"146-149"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[A case of anti-ganglioside antibody-positive Guillain-Barré syndrome with asymmetrical muscle weakness throughout the course of the disease]. [抗神经节苷脂抗体阳性格林-巴罗综合征伴不对称肌无力1例]。
Clinical Neurology Pub Date : 2025-01-29 Epub Date: 2024-12-18 DOI: 10.5692/clinicalneurol.cn-002001
Hitomi Sato, Rena Okudera, Yu Hongo, Taro Matsui, Katsunori Ikewaki, Kazushi Suzuki
{"title":"[A case of anti-ganglioside antibody-positive Guillain-Barré syndrome with asymmetrical muscle weakness throughout the course of the disease].","authors":"Hitomi Sato, Rena Okudera, Yu Hongo, Taro Matsui, Katsunori Ikewaki, Kazushi Suzuki","doi":"10.5692/clinicalneurol.cn-002001","DOIUrl":"10.5692/clinicalneurol.cn-002001","url":null,"abstract":"<p><p>A 56-year-old woman who presented with left drop foot and low back pain a week after the onset of diarrhea. Neurological symptoms progressed for a week and gradually improved thereafter. No weakness was observed in upper limbs and clearly asymmetrical muscle weakness was observed in left lower limbs during the course of the disease. Nerve conduction study demonstrated absent motor responses in the left tibial and fibular nerves, and compound muscle action potentials in the right tibial nerve was decreased in amplitude without conduction slowing. Serum IgG anti-GalNAc-GD1a antibody and anti-ganglioside complex antibodies were positive. Based on these findings, we diagnosed her as a rare variant of Guillain-Barré syndrome (GBS) with marked asymmetrical muscle weakness. In the literature, GBS patients with asymmetrical muscle weakness often have anti-ganglioside antibodies associated with acute motor axonal neuropathy. A detailed history taking and information on the clinical course are helpful for accurate diagnosis of GBS with atypical distribution of weakness.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"27-31"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Summarising a case you experienced: how to write an abstract effectively]. 【总结你经历过的一个案例：如何有效地写摘要】。
Clinical Neurology Pub Date : 2025-01-29 Epub Date: 2024-12-21 DOI: 10.5692/clinicalneurol.cn-002034
Akiyuki Hiraga
{"title":"[Summarising a case you experienced: how to write an abstract effectively].","authors":"Akiyuki Hiraga","doi":"10.5692/clinicalneurol.cn-002034","DOIUrl":"10.5692/clinicalneurol.cn-002034","url":null,"abstract":"<p><p>Just like the title, a well-written abstract is crucial for submitting your case report to conferences or medical journals. Authors should write the abstract following four key principles. First, one should be guided by the ABCs of writing-accurate, brief, and clear. Do not include unnecessary information. Second, the abstract is not the preview. Abstracts should be stand-alone. Do not write 'we report this case, adding discussion with the literature' or 'additional cases are needed in future' at the end of the abstract. Third, do not simply focus on the rarity of the case. Avoid writing statements such as 'we report this case because it is a rare, valuable/worthful case'. The abstract of a case needs a clear 'learning point' for readers. Lastly, carefully confirm and follow the guidelines of target conferences or journals.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"48-52"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Rehabilitation therapy for aquaporin-4 antibody positive neuromyelitis optica spectrum disorders]. [水通道蛋白-4抗体阳性视神经脊髓炎谱系障碍的康复治疗]。
Clinical Neurology Pub Date : 2025-01-29 Epub Date: 2024-12-21 DOI: 10.5692/clinicalneurol.cn-001993
Junko Ikeda, Kazuki Muguruma, Kazuhide Ochi, Satomi Kushitani, Yumiko Kaseda, Hirofumi Maruyama
{"title":"[Rehabilitation therapy for aquaporin-4 antibody positive neuromyelitis optica spectrum disorders].","authors":"Junko Ikeda, Kazuki Muguruma, Kazuhide Ochi, Satomi Kushitani, Yumiko Kaseda, Hirofumi Maruyama","doi":"10.5692/clinicalneurol.cn-001993","DOIUrl":"10.5692/clinicalneurol.cn-001993","url":null,"abstract":"<p><p>Forty-five cases with aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders (NMOSD) who underwent convalescent rehabilitation were studied. After excluding three cases with recurrence during rehabilitation treatment, the Expanded Disability Status Scale of Kurtzke improved a median of 1 point. Corticosteroids were the most used disease-modifying drugs (DMDs). Three cases relapsed during rehabilitation treatment. Six cases developed febrile infections. Thirty-four cases were discharged home, but half of the cases in their 80s were transferred to a medical care hospital. In the rehabilitation treatment of NMOSD, reducing the risk of recurrence by appropriate DMDs and preventing infections are important. Information sharing using a regional collaborative medical care plan is useful.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"16-21"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[How to use clinical neurophysiology in functional neurological disorders (FND)?] 如何在功能性神经障碍（FND）中应用临床神经生理学？］
Clinical Neurology Pub Date : 2025-01-29 Epub Date: 2024-12-21 DOI: 10.5692/clinicalneurol.cn-002050
Yoshikazu Ugawa
{"title":"[How to use clinical neurophysiology in functional neurological disorders (FND)?]","authors":"Yoshikazu Ugawa","doi":"10.5692/clinicalneurol.cn-002050","DOIUrl":"10.5692/clinicalneurol.cn-002050","url":null,"abstract":"<p><p>I have reviewed the utility of clinical neurophysiological examinations in recently highlighted functional neurological disorders (FND) focusing mainly on functional movement disorders (FMD). There are many neurophysiological methods useful for diagnosis of FMD. I will hereafter summarize a few of them in the following part. Surface EMG: This is one of minimally required examinations for clinical analysis of movement disorders. It plays roles in the exclusion of organic disorders and showing positive findings to support FND, especially for functional tremor. The power spectral analysis of surface EMG clearly proves a few useful findings, such as entrainment, distraction and others. Somatosensory evoked potential (SEP): Giant SEP is critical because it proves organic disorders with hyperexcitability of the sensory cortex. Single pulse transcranial magnetic stimulation (TMS): Normal motor evoked potential (MEP) showing intact corticospinal tracts is a positive finding for functional paresis patients. It is also useful to exclude the corticospinal tracts organic dysfunction. Jerk-locked back averaging (JLA), bereitschaftspotential (BP), event related desynchronization (ERD): These are sometimes used for functional disorders, but their clinical validity remains to be determined.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[A case of paroxysmal dysarthria and ataxia appeared late after treatment of myelin oligodendrocyte glycoprotein (MOG) antibody-related isolated rhombencephalitis]. 【髓鞘少突胶质细胞糖蛋白（MOG）抗体相关的分离型菱形脑炎治疗后出现阵发性构音障碍和共济失调1例】。
Clinical Neurology Pub Date : 2025-01-29 Epub Date: 2024-12-18 DOI: 10.5692/clinicalneurol.cn-002031
Tosi Sai, Keisuke Imai, Takehiro Yamada, Masanori Cho, Atsushi Yamamoto, Testuya Ioku
{"title":"[A case of paroxysmal dysarthria and ataxia appeared late after treatment of myelin oligodendrocyte glycoprotein (MOG) antibody-related isolated rhombencephalitis].","authors":"Tosi Sai, Keisuke Imai, Takehiro Yamada, Masanori Cho, Atsushi Yamamoto, Testuya Ioku","doi":"10.5692/clinicalneurol.cn-002031","DOIUrl":"10.5692/clinicalneurol.cn-002031","url":null,"abstract":"<p><p>A 49-year-old female was admitted to our hospital due to acute-onset dysarthria and unstable gait. Brain MR diffusion weighted imaging revealed high signal intensities in the midbrain. Brain tumors, abscess and demyelinating lesions was suspected firstly as etiology of the lesion and antibiotics and antiviral drug were started under consulting with the neurosurgeon about brain biopsy. However, despite these treatment her symptoms were deteriorated gradually and intravenous high dose methylprednisolone was added. Since starting this treatment, her symptoms had been improving and the same treatment was repeated once and oral administration of prednisolone (0.5 ‍mg/kg/day) was started. Based on the positive for anti myelin oligodendrocyte glycoprotein (MOG) antibody in the serum, she was ultimately diagnosed with MOG related rhombencephalitis and discharged to her home on the 45th day. After discharge, new paroxysmal symptoms such as paroxysmal dysarthria and ataxia (PDA) had appeared whose symptoms occurred several times a day and lasted for a few seconds to several tens of seconds. These symptoms were regarded as PDA secondary to sequelae of MOG related rhombencephalitis and oral administration of Carbamazepine was started. After the treatment, the symptoms completely disappeared. The differential diagnosis of midbrain tegmental lesions should consider MOG antibody-associated disease, and in cases where delayed-onset PDA occurs, carbamazepine may be effective.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"45-47"},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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