Clinical Neurology最新文献

{"title":"[A case of multifocal glioblastoma with ring enhancement, mimicking cerebral toxoplasmosis with ring-enhanced lesions].","authors":"Munenori Iwamoto, Natsuki Mori, Yoshimitsu Shimatani, Kazuki Yamamoto, Yukihiro Imai, Hiroyuki Ishihara","doi":"10.5692/clinicalneurol.cn-002019","DOIUrl":"10.5692/clinicalneurol.cn-002019","url":null,"abstract":"<p><p>A 57-year-old male patient with a history of daily contact with stray cats was transferred to our hospital with weakness in the left limb and mild disturbance of consciousness. At presentation, he had no fever or signs of meningeal irritation. Cerebrospinal fluid examination revealed lymphocytic pleocytosis; however, the cerebrospinal culture was negative. Computed tomography of the thorax and abdomen showed no abnormalities. Gadolinium-enhanced brain MRI revealed multiple contrast-enhanced lesions in the periventricular white matter and enhanced lateral ventricles. Under the suspicion of cerebral toxoplasmosis, trimethoprim-sulfamethoxazole was administered, but his symptoms gradually worsened. Histopathological findings of the first brain biopsy did not reach the definitive diagnosis. The tissue culture detected Propionibacterium acnes. Despite changes in antibiotics (ceftriaxone and ampicillin), his symptoms progressed. The second brain biopsy revealed diffuse proliferation of atypical glial cells with irregular size of nuclei and necrosis. The diagnosis was glioblastoma, IDH-wild type, CNS WHO grade 4. The radiological findings in this case were initially recognized as isolated multiple lesions with surrounding vasogenic edema, but we authors should have suspected the brain tumor which spreads through the corpus callosum. Multifocal glioblastomas, a rare type of glioblastoma, has worse prognosis than unifocal glioblastoma. This case also emphasizes the importance of the appropriate timing of brain biopsy and careful validation of biopsy sampling.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"224-229"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516935","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}

{"title":"[A case of anti-IgLON5 disease with recurrent respiratory failure].","authors":"Shintaro Akamatsu, Heisuke Mizukami, Akio Kimura, Takayoshi Shimohata, Makoto Shiraishi, Yoshihisa Yamano","doi":"10.5692/clinicalneurol.cn-002014","DOIUrl":"10.5692/clinicalneurol.cn-002014","url":null,"abstract":"<p><p>A 72-year-old woman with a seven-year history of Parkinson's disease, characterized by gait instability, rigidity, and postural instability, was admitted to our department for evaluation of recurrent episodes of hypoxemia and altered consciousness. During hospitalization, she experienced recurrent episodes of respiratory failure, prompting the measurement of anti-IgLON5 antibodies, which were found to be positive, leading to a diagnosis of anti-IgLON5 disease. The respiratory failure could not be attributed to vocal cord paralysis or respiratory muscle weakness, leading to the hypothesis that subglottic laryngeal spasm was the cause. Treatment with steroid pulse therapy resulted in improved ventilation. While several cases of anti-IgLON5 disease presenting with respiratory failure due to respiratory muscle weakness have been reported, this case suggests that subglottic laryngeal spasm may also be an underlying cause of respiratory failure in anti-IgLON5 disease.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"218-223"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516928","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}

{"title":"[SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report].","authors":"Yusuke Baba, Meiko Maeda, Kyosuke Muramatsu, Kenta Tominaga, Kunihiro Ueda, Shogo Komaki, Yoshihiko Saito, Masashi Hamada, Wataru Satake, Ichizo Nishino, Tatsushi Toda","doi":"10.5692/clinicalneurol.cn-002046","DOIUrl":"10.5692/clinicalneurol.cn-002046","url":null,"abstract":"<p><p>The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with \"non-Fukuyama congenital muscular dystrophy\" via muscle biopsy. Difficulties in independent walking and standing emerged by 14 years of age, progressing to significant mobility challenges by 21 years of age. The patient was referred to our department at 33 years of age for the transition to adult care. The examination revealed predominant trunk muscle weakness, persistent scoliosis, restricted neck and trunk mobility, significant restrictive ventilatory impairment, and mild intellectual developmental delay. Reanalysis of the muscle biopsy pathology was conducted, and genetic testing identified a known homozygous mutation, c.1574T>G (p.M525R), in the SELENON (SEPN1) gene, leading to a diagnosis of SELENON-related myopathy. The pediatric-to-adult healthcare transition can provide a valuable opportunity for the reassessment of diagnoses and disabilities.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"139-145"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048367","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}

{"title":"[Severe eosinophilic granulomatosis with polyangiitis-related peripheral neuropathy after the cessation of mepolizumab. A case report].","authors":"Tomoki Kawasaki, Akiko Tamura, Masunari Shibata, Kazuto Nishinaka, Satoko Nozato, Fukashi Udaka","doi":"10.5692/clinicalneurol.cn-001992","DOIUrl":"10.5692/clinicalneurol.cn-001992","url":null,"abstract":"<p><p>A 78-years-old man was treated for asthma and pansinusitis for >5 years, and mepolizumab was initiated two years previously. Two months after the cessation of mepolizumab treatment, the asthma symptoms worsened and acute progressive muscle weakness and sensory disturbance developed. On day 8 after the onset of weakness and hypoesthesia, the patient presented with complete flaccid tetraplegia and diffuse hypoesthesia of all extremities, without paresthesia or pain, and was admitted to our hospital. Blood tests revealed eosinophilia without anti-neutrophil cytoplasmic antibody elevation. Nerve conduction studies revealed severe axonal polyneuropathy and multifocal absent F-waves. Cerebrospinal fluid was normal. Eosinophilic granulomatosis with polyangiitis (EGPA) and Guillain-Barré syndrome (GBS) were suspected, and high-dose methylprednisolone was administered, followed by oral prednisolone. Eosinophils rapidly disappeared; however, the neurological symptoms did not improve. On day 16, sural nerve biopsy revealed myelinated fiber loss in most of the fibers in every nerve bundle regardless of fiber size, while eosinophilic infiltration in the epineurium and findings suggestive of necrotizing vasculitis were not observed. The results did not fulfill the pathological criteria for EGPA but supported the changes in vasculitis; hence, EGPA was diagnosed. Intravenous immunoglobulin, azathioprine, and rituximab were administered, and the prednisolone dose was gradually reduced to 10 ‍mg/d. The eosinophil count increased to 50/μl without pneumonia recurrence or worsening asthma. Neuropathy in the upper limbs gradually improved over two years, whereas that in the lower limbs did not change. This is the first reported case of sequential exacerbation of asthma and onset of EGPA after mepolizumab discontinuation. Among patients with asthma, the cessation of mepolizumab treatment may lead to the development of EGPA with an atypical clinical course, such as rapidly progressive severe neuropathy mimicking GBS.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"108-114"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068567","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}

{"title":"[Two cases of Perry disease (Perry syndrome) in the same family with normal ¹²³I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy].","authors":"Yoshito Take, Ryuji Saigo, Hitoshi Arata, Yusuke Sakiyama, Kimiyoshi Arimura, Hideki Ohkatsu","doi":"10.5692/clinicalneurol.cn-001995","DOIUrl":"10.5692/clinicalneurol.cn-001995","url":null,"abstract":"<p><p>This study investigated two cases. Case 1 involves a 53-year-old man who suffered from sleep apnea syndrome at age 48. Moreover, he was involved in a rear-end collision while driving and was admitted to the hospital at age. He exhibited impaired consciousness, postural tremors, and bradykinesia in the upper extremities. Subsequently, he was managed on a ventilator due to unexplained alveolar hypoventilation. Case 2 is his younger sister, a 46-year-old woman, who was being treated for depression and began to show signs of parkinsonism around age 43. The metaiodobenzylguanidine (MIBG) myocardial scintigraphy results were normal in both cases. Given that their father was also managed on a ventilator due to unexplained alveolar hypoventilation, exome analyses were performed. Both were found to have a previously reported heterozygous mutation (p.Y78C) in the DCTN1 gene and were diagnosed with Perry disease. Although MIBG myocardial scintigraphy is a useful test for diagnosing Perry disease, it is important to note that there are cases where it may yield normal results.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"115-119"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048373","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}

{"title":"[Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan].","authors":"Yuka Shibata, Hyangri Chang, Katsuya Nakamura, Shinichiro Yamada, Masaaki Matsushima, Kazumasa Saigoh, Hiroyuki Ishiura, Yoshiki Sekijima, Hirofumi Maruyama, Takeshi Ikeuchi, Kazuko Hasegawa, Masashi Aoki, Masahisa Katsuno, Tatsushi Toda, Ichiro Yabe","doi":"10.5692/clinicalneurol.cn-002049","DOIUrl":"10.5692/clinicalneurol.cn-002049","url":null,"abstract":"<p><p>In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese medical system, because the development of disease-modifying therapies has progressed, and we are entering an era in which early diagnosis and early treatment are necessary. The guidelines presented here were devised by the Committee on Medical Genetics of the Japan Neurological Society. During their development, Delphi surveys were conducted among individuals with extensive experience in presymptomatic testing throughout Japan, with 42 experts participating in all three surveys, and a consensus-building process was undertaken. Finally, the guidelines consist of 45 recommendations for performing presymptomatic testing for adult-onset inherited neurological and muscular diseases.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"101-107"},"PeriodicalIF":0.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048359","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}

{"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. T₂-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}

{"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}

{"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 T₂-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}

{"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}