Clinical Neurology最新文献

{"title":"[A case of meningitis due to anti-centromere antibody-positive Sjögren syndrome].","authors":"Yoko Tsuboyama, Akihiko Mitsutake, Yuto Sakai, Nobue K Iwata","doi":"10.5692/clinicalneurol.cn-002058","DOIUrl":"10.5692/clinicalneurol.cn-002058","url":null,"abstract":"<p><p>A 79-year-old woman was diagnosed with Sjögren's syndrome (SjS) at the age of 73 years by lip biopsy, gum test, and salivary gland scintigraphy with positive antinuclear (ANA), positive anti-centromere (ACA), and negative anti-Ro/SS-A antibodies. Seven days before admission, the patient developed gait disturbance, which progressed to difficulty in walking two days before admission. She was hospitalized because of subacute gait disturbance. Neurological examination showed gait disturbances characterized by small steps, wide-based gait, left upper limb clumsiness, and frontal lobe dysfunction. Laboratory tests confirmed positive ANA and ACA and negative anti-Ro/SS-A and anti-La/SS-B antibodies. Cerebrospinal fluid analysis showed mildly elevated protein levels and increased monocyte count. Brain MRI showed hyperintensity in the bilateral frontal regions on fluid-attenuated inversion recovery (FLAIR)/contrast-enhanced T₁-weighted imaging, and N-isopropyl-p-¹²³I-iodoamphetamine single-photon emission computed tomography (¹²³I-IMP SPECT) showed decreased accumulation in the frontal region. After excluding cancerous, infectious, and immune-mediated causes, ACA-single-positive SjS-related meningitis was diagnosed. The patient responded well to steroid therapy. The patient was able to walk short distances and showed improvement in frontal lobe function. Follow-up MRI and ¹²³I-IMP SPECT demonstrated the resolution of previous abnormalities. Knowingly, there have been no reported cases of SjS-related meningitis with positive ACA. Considering that anti-Ro/SS-A antibodies are involved in the pathogenesis of meningitis, this case is extremely rare. We propose that ACA-positive SjS be considered in the differential diagnosis of aseptic meningitis.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"236-239"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494023","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":"[Spinal and bulbar muscular atrophy with hyper CKemia and selective muscle atrophy of the lower extremities].","authors":"Keisuke Hara, Maiko Umeda, Yoshitaka Umeda, Mutsuo Oyake, Nobuya Fujita","doi":"10.5692/clinicalneurol.cn-002057","DOIUrl":"10.5692/clinicalneurol.cn-002057","url":null,"abstract":"","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"240-241"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494033","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":"[Identification of potential embolic source and consideration for ischemic lesion formation using the consecutive patient registry of acute embolic stroke].","authors":"Yasumasa Yamamoto, Yoshinari Nagakane","doi":"10.5692/clinicalneurol.cn-002054","DOIUrl":"10.5692/clinicalneurol.cn-002054","url":null,"abstract":"<p><p>We investigated the 992 consecutive patients with acute embolic stroke and identified potential embolic sources (PES) for 88.3% applying transesophageal echocardiography (TEE). We classified patients into 3 groups, the Group A (n ‍= ‍560): PES were identified after general examinations, the Group B (n ‍= ‍366): PES were identified after TEE or long-term EEG monitoring and the Group C (n ‍= ‍66): TEE could not be performed. In Group A, continuous atrial fibrillation (cAf) was most prevalent (n ‍= ‍464, 82.8%), succeeded by myocardial infarction (n ‍= ‍39, 6.9%) and Trousseau syndrome (n ‍= ‍27, 4.8%), etc. In Group B, paroxysmal atrial fibrillation (pAf) was most prevalent (n ‍= ‍168, 45.9%), succeeded by paradoxical embolism (n ‍= ‍77, 21.0%) and aorto-embolism (n ‍= ‍77, 19.3%). We investigated the association of topographic diffusion-weighted imaging patterns (DWI) with PES. DWI was determined based on the arterial supply. Middle cerebral arteries were particularly divided into 4 segments, i.e., M1~M4. Moreover, M2 segments were subdivided into superior and inferior branches. The infarcts of larger caliber arteries such as internal carotid artery, M1 and M2, and multiple cortical branches were mostly associated with atrial fibrillation including cAf and pAf. Striatocapsular infarction were significantly associated with paradoxical embolism. Multiple small scattered infarcts were predominant in aorto-embolism as well as paradoxical embolism, Trousseau syndrome and thrombocytosis. The associations of DWI with different PES have their distinctive characteristics and may help predict PES in patients with embolic stroke of undetermined source. DWI pattern may be determined by the composition of thrombi and hydrodynamics of cerebral vasculature.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"203-210"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516937","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 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}