Clinical Neurology最新文献_第2页

[Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report]. 【努南综合征伴多椎体的腰骶神经根肥大1例】。

Clinical Neurology Pub Date : 2025-07-24 DOI: 10.5692/clinicalneurol.cn-002094

Yukako Araga, Yoshitsugu Nakamura, Kensuke Kakiuchi, Takafumi Hosokawa, Shimon Ishida, Shigeki Arawaka

{"title":"[Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report].","authors":"Yukako Araga, Yoshitsugu Nakamura, Kensuke Kakiuchi, Takafumi Hosokawa, Shimon Ishida, Shigeki Arawaka","doi":"10.5692/clinicalneurol.cn-002094","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002094","url":null,"abstract":"The patient was a 61-year-old man in whom sensorineural hearing loss were noted after birth and the presence of multiple cutaneous millet-sized lentigines were noted after about 6-year-old. He had pain in his bilateral lower extremities; 1 month later, he visited our hospital. He had no family history of neurological or cutaneous symptoms. In nerve conduction studies, the F-wave frequencies were reduced in the bilateral tibial nerves. In lumbar spine magnetic resonance imaging, the bilateral lumbosacral nerve roots showed hypertrophy. A genetic analysis revealed that he had a heterozygous single-base non-synonymous substitution in the PTPN11 gene (c.1403C>T, p.Thr468Met). This substitution is known pathogenic variant. We diagnosed the patient with Noonan syndrome with multiple lentigines. This syndrome is a RASopathy that is caused by variants in genes encoding the SHP-2 protein, which is a component of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies should be included as differential diagnoses for spinal nerve root enlargement.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709303","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 autopsy case of non-drug related progressive multifocal leukoencephalopathy in a background of rheumatoid arthritis]. [一例以类风湿关节炎为背景的非药物相关性进行性多灶性脑白质病的尸检]。

Clinical Neurology Pub Date : 2025-07-24 DOI: 10.5692/clinicalneurol.cn-002080

Yoshie Kato, Asuka Araki, Yoshiharu Miura, Kazuo Nakamichi, Kenta Takahashi, Atsushi Nagai

{"title":"[An autopsy case of non-drug related progressive multifocal leukoencephalopathy in a background of rheumatoid arthritis].","authors":"Yoshie Kato, Asuka Araki, Yoshiharu Miura, Kazuo Nakamichi, Kenta Takahashi, Atsushi Nagai","doi":"10.5692/clinicalneurol.cn-002080","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002080","url":null,"abstract":"A 56-year-old male subject was presented with a two-month history of dysarthria and gait disturbance. T2-weighted MRI revealed high signal intensity in the right cerebellar hemisphere, pons, and bilateral middle cerebellar peduncles. Suspecting brain-stem encephalitis, he was treated with steroid pulse therapy, which was ineffective. Subsequently, a qualitative PCR test was performed, confirming the diagnosis of progressive multifocal leukoencephalopathy (PML) with a high JC virus (JCV) load (273,857 copies/ml) in the cerebrospinal fluid (CSF). The JCV strain in the CSF was a prototype with a deletion in the regulatory region of its genomic DNA. Long-term untreated rheumatoid arthritis (RA) was identified as an underlying cause. Other potential immunodeficiency-related diseases, including idiopathic CD4 lymphocytopenia, malignant RA, systemic lupus erythematosus, chronic eosinophilic leukemia, malignant lymphoma, and congenital immunodeficiency, were ruled out based on various laboratory tests. Despite treatment with a combination of mefloquine and mirtazapine, the patient died on the 102nd day due to disease progression. RA with non-drug related immune abnormalities should be considered a potential underlying cause of PML.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709301","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 recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)]. [一例复发性小脑炎导致线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）的诊断]。

Clinical Neurology Pub Date : 2025-07-24 DOI: 10.5692/clinicalneurol.cn-002117

Yuko Ito, Chikako Ochi, Yuki Yamanishi, Hiroshi Takashima, Akihiro Hashiguchi, Masahiro Nagai

{"title":"[A case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)].","authors":"Yuko Ito, Chikako Ochi, Yuki Yamanishi, Hiroshi Takashima, Akihiro Hashiguchi, Masahiro Nagai","doi":"10.5692/clinicalneurol.cn-002117","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002117","url":null,"abstract":"The patient was a 41-year-old man with a history of diabetes mellitus since the age of 22 years and a family history of diabetes in his mother. He had repeated headaches, cerebellar symptoms, and bilateral cerebellar lesions on brain MRI (DWI, T2 FLAIR hyperintensities). He was previously diagnosed with cerebellitis and treated with steroids at another hospital. Upon his third relapse, he was referred to our department. Clinical findings included short stature, diabetes, elevated CSF lactate and pyruvate levels, and increased lactate levels on aerobic exercise testing. Muscle biopsy revealed mitochondrial pathological abnormalities, and genetic testing of muscle tissue identified the mitochondrial DNA m.3243 mutation. These findings led to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Stroke-like lesions in MELAS can involve not only the cerebrum but also the cerebellum. When cortical-predominant lesions with associated vascular dilatation are observed, MELAS should be considered in the differential diagnosis.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709298","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

[Received the Japan Neurological Society Award]. [获得日本神经学会奖]。

Clinical Neurology Pub Date : 2025-07-24 DOI: 10.5692/clinicalneurol.cn-002139

Takashi Kanda

引用次数: 0

[A case of Streptococcus suis meningitis in which the patient suffered sensorineural hearing loss and requring long-term antibacterial treatment]. [猪链球菌脑膜炎1例，患者出现感音神经性听力丧失，需要长期抗菌治疗]。

Clinical Neurology Pub Date : 2025-07-24 DOI: 10.5692/clinicalneurol.cn-002123

Tomoki Ishimaru, Kei Oiwa, Sho Seo, Takahiro Kano, Hideki Hozen

{"title":"[A case of Streptococcus suis meningitis in which the patient suffered sensorineural hearing loss and requring long-term antibacterial treatment].","authors":"Tomoki Ishimaru, Kei Oiwa, Sho Seo, Takahiro Kano, Hideki Hozen","doi":"10.5692/clinicalneurol.cn-002123","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002123","url":null,"abstract":"A man in his 40s was transferred to our hospital due to headache, hearing loss, and altered consciousness, which developed several days after consuming a barbeque meal, including pork. Based on his clinical symptoms and various laboratory findings, he was diagnosed with bacterial meningitis caused by Streptococcus suis, and treatment was initiated with antibacterial agents and dexamethasone. After 3 weeks, his symptoms and laboratory results showed improvement, allowing for the discontinuation of the antibacterial therapy. However, a few days after stopping antibiotics, his symptoms and cerebrospinal fluid (CSF) findings worsened, prompting the resumption of antibacterial treatment. The therapy was ultimately terminated after 5 weeks, following confirmation of clinical and CSF improvement. Despite resolution of the meningitis symptoms, the patient was left with bilateral sensorineural hearing loss, predominantly affecting his right ear. Following systemic steroid administration and hyperbaric oxygen therapy, his left-sided hearing improved, but no improvement was observed in his right ear, and he continued to experience severe hearing loss.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709299","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 autopsy case of spinal bulbar muscular atrophy concomitant with multiple system atrophy pathology]. [脊髓球肌萎缩伴多系统萎缩病理尸检1例]。

Clinical Neurology Pub Date : 2025-07-24 DOI: 10.5692/clinicalneurol.cn-002087

Raita Kikuchi, Kenji Ishihara, Jun'ichi Shiota, Mitsuru Kawamura, Mari Yoshida

{"title":"[An autopsy case of spinal bulbar muscular atrophy concomitant with multiple system atrophy pathology].","authors":"Raita Kikuchi, Kenji Ishihara, Jun'ichi Shiota, Mitsuru Kawamura, Mari Yoshida","doi":"10.5692/clinicalneurol.cn-002087","DOIUrl":"https://doi.org/10.5692/clinicalneurol.cn-002087","url":null,"abstract":"We describe an autopsy case of spinal bulbar muscular atrophy (SBMA) concomitant with multiple system atrophy (MSA). A Japanese male patient developed gait disturbance in his twenties. His brother and niece also presented with similar clinical symptoms. His condition gradually worsened, and he became immobile at the age of 50 years. Genetic analysis revealed the expansion of CAG repeats of the SBMA gene. At 63 years of age, cerebellar ataxia symptoms emerged. Magnetic resonance images of the head showed a \"hot cross bun sign\" at the pontine basis and bilateral atrophy of the middle cerebellar peduncles and cerebellar hemispheres, suggesting MSA. He died of pneumonia at the age of 65 years, with a clinical illness of approximately 40 years. The neuropathological diagnosis was consistent with both SBMA and MSA. Neurons of the spinal anterior horn and brainstem motor nuclei were diminished. 1C2 (polyglutamine) immunoreactive intranuclear and intracytoplasmic inclusions were observed in the neurons in the substantia nigra, brainstem tegmentum, pontine nuclei, spinal anterior horn cells and Onuf's nucleus. These findings were suggestive of SBMA. Meanwhile, neurons of the inferior olivary nuclei, pontine nuclei, and Purkinje cells were nearly completely lost. The cerebellar white matter, pontine basis, and middle cerebellar peduncles showed a prominent loss of fibers. α-synuclein positive glial cytoplasmic inclusions were observed in widespread areas. These findings were suggestive of MSA. To the best of our knowledge, another case of SBMA accompanying MSA, similar to the present case, have been reported to date. Moreover, several cases of pathologically proven amyotrophic lateral sclerosis and MSA have been reported. The development of molecular biological techniques and accumulation of pathologically diagnosed patients may reveal common pathological mechanisms in SBMA and MSA.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709302","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 treatment-related leukoencephalopathy during combination therapy with daratumumab, lenalidomide, and low-dose dexamethasone for multiple myeloma]. [达拉单抗、来那度胺和小剂量地塞米松联合治疗多发性骨髓瘤期间发生治疗相关性白质脑病1例]。

Clinical Neurology Pub Date : 2025-07-24 DOI: 10.5692/clinicalneurol.cn-002069

Keiko Maezono-Kandori, Hiroki Suo, Naoki Tokuda, Atsushi Yamamoto, Shiori Ogura, Yoshinari Nagakane

引用次数: 0

[Posterior cortical atrophy presenting with agraphia for kanji and statokinetic dissociation (Riddoch phenomenon): a case report]. 后皮质萎缩表现为汉字失写症和静止动力学解离（Riddoch现象）：1例报告。

Clinical Neurology Pub Date : 2025-06-26 Epub Date: 2025-05-20 DOI: 10.5692/clinicalneurol.cn-002036

Kyoko Maruta, Kazutaka Shiomi

{"title":"[Posterior cortical atrophy presenting with agraphia for kanji and statokinetic dissociation (Riddoch phenomenon): a case report].","authors":"Kyoko Maruta, Kazutaka Shiomi","doi":"10.5692/clinicalneurol.cn-002036","DOIUrl":"10.5692/clinicalneurol.cn-002036","url":null,"abstract":"We report a patient with posterior cortical atrophy (PCA) who manifested as agraphia for kanji and statokinetic dissociation (Riddoch phenomenon). A 52-year-old, right-handed woman complained that beginning at age 50, she could write only kana (a phonographic script) but not kanji (a morphographic script). She could not write even her own name in kanji. Neuropsychologic examinations disclosed kanji-dominant agraphia, acalculia, right-left disorientation, finger agnosia, constructional apraxia, and simultanagnosia. Many of these, including agraphia, are components of Gerstmann syndrome. She manifested no aphasia or alexia, while not only writing but also copying of kanji was impaired. Speech functions, behavior, and personality were relatively spared. The patient also displayed statokinetic dissociation (Riddoch phenomenon): kinetic Goldmann fields were normal, but static Humphrey visual fields showed an incongruous right homonymous hemianopsia. MRI showed atrophy of the left parietal lobe. 99mTc ethyl cysteinate dimer (ECD) single-photon emission computed tomography (SPECT) showed hypoperfusion , predominantly in the left hemisphere and especially left the parietal lobe . These clinical and neuroradiologic findings are consistent with PCA. In patients with PCA, suspected incomplete homonymous hemianopsia should be confirmed with a Humphrey visual field test. Ishihara pseudoisochromatic plates may not be reliable; color vision should be checked using the panel D-15 test.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"416-423"},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121047","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 young woman with intracranial gumma developed within 1 year after Treponema pallidum infection]. 【梅毒螺旋体感染后1年内发生颅内牙龈瘤1例】。

Clinical Neurology Pub Date : 2025-06-26 Epub Date: 2025-05-20 DOI: 10.5692/clinicalneurol.cn-002073

Takahiro Akamatsu, Yuichi Masuda, Taiki Sawai, Shin Ota, Takafumi Hosokawa, Shigeki Arawaka

引用次数: 0

[Update of clinical management in autoimmune encephalitis-2024]. [自身免疫性脑炎临床治疗进展-2004]。

Clinical Neurology Pub Date : 2025-06-26 Epub Date: 2025-05-24 DOI: 10.5692/clinicalneurol.cn-002102

Satoshi Kamei

{"title":"[Update of clinical management in autoimmune encephalitis-2024].","authors":"Satoshi Kamei","doi":"10.5692/clinicalneurol.cn-002102","DOIUrl":"10.5692/clinicalneurol.cn-002102","url":null,"abstract":"Encephalitis is a life-threatening disease with many causes. The continual discovery of newly identified forms of autoimmune encephalitis (AE) associated with antibodies to cell-surface or synaptic proteins has changed the paradigms for diagnosing and treating disorders. AE is one of the most common causes of non-infectious encephalitis. It can be triggered by tumors, infections, or it may be cryptogenic. These disorders can occur in patients with or without cancer. I review here the update of clinical management in AE. Recent clinical trends in AE include 1) the spread of clinical manifestations, 2) pitfalls of misdiagnosed cases and risk factors for misdiagnosis, and 3) treatment trends for refractory cases and symptomatic epilepsy. 1) The spread of clinical manifestations includes the presence of autoimmune psychosis (Pollak TA Lancet Psychiatry 2020), the presence of AE in adult-onset temporal lobe epilepsy (Kuehn JC, PLoS One 2020), and AE cases presenting with progressive dementia (Bastiaansen AEM, Neurol Neuroimmunol Neuroinflamm 2021). 2) Misdiagnosis and inappropriate use of diagnostic criteria for antibody-negative cases have been pointed out (Dalmau J. Lancet Neurol 2023). Misdiagnoses of AE occur for three reasons. First, non-adherence to reported clinical requirements for diagnostic criteria for AE. Second, the evaluation of inflammatory changes in head MRI and cerebrospinal fluid is insufficient. Third, absent or limited use of brain tissue assays along with use of cell-based assays that include only a narrow range of antigens. Red flags suggesting alternative diagnoses included an insidious onset, positive nonspecific serum antibody, and failure to fulfill AE diagnostic criteria. 3) Treatment trends for rituximab-resistant refractory cases include tocilizumab (IL6 receptor monoclonal antibody) and bortezomib (26S proteasome inhibitor). On the other hand, new Na channel inhibitors (lacosamide, etc.) and perampanel may be useful for treating symptomatic epilepsy in AE.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"409-415"},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144121053","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