Publisher：BMC Neurology  

DOI： 10.1186/s12883-018-1131-3

Scopus

PubMed

Publisher：Societas Neurologica Japonica  

<p>A 43-year-old man without a previous episode of uveitis presented with slowly progressive neurological symptoms that appeared within the past year such as dysarthria, ataxic gait, and behavioral changes. Brain MRI findings showed atrophic lesions in the brainstem and cerebellum. Because these clinical symptoms and abnormal MRI findings indicated spinocerebellar degeneration as the initial diagnosis, he was admitted to our hospital. On admission, we noticed that he had non-neurological manifestations of Behçet disease, such as stomatitis, genital ulcers, and folliculitis. HLA-B51 was positive. He also showed pleocytosis (29 cells/mm³, predominantly mononuclear cells) and elevated cerebrospinal fluid (CSF) IL-6 levels (213 pg/m<i>l</i>), hence he was diagnosed with chronic progressive neuro-Behçet disease (CPNBD). The therapeutic effect of a high-dose intravenous methylprednisolone pulse (1,000 mg/day for 3 days) and methotrexate (maximum dosage, 16 mg/week) was poor against both neurological symptoms and CSF findings. Intravenous infliximab therapy (5 mg/kg, 2 weeks) dramatically decreased CSF IL-6 levels (13 pg/m<i>l</i>) but clinical symptoms remained unchanged. MRI findings of extensive cerebral atrophy and increased CSF IL-6 levels at the pretreatment time point reflected irreversible neurological involvement in CPNBD. For cases with progressive psychiatric symptoms and cerebellar ataxia in the early stage of the disease, skin manifestations should be examined immediately, CSF IL-6 levels measured, and immunosuppressive therapy initiated before CPNBD progresses to brainstem atrophy.</p>

DOI： 10.5692/clinicalneurol.cn-001086

Scopus

PubMed

Publisher：Japanese Society of Neurological Therapeutics  

<p>We reviewed the recent advances in therapeutics of spinocerebellar degeneration (SCD) that were published in 2017. This article introduces the outline of therapies with antisense oligonucleotide, docosahexaenoic acid, mesenchymal stem cells, acetyl–DL–leucine, and rehabilitation using wearable devices and virtual reality. We expect that these treatments will contribute to patients with SCD.</p>

DOI： 10.15082/jsnt.35.5_605

Publisher：The Japanese Society of Internal Medicine  

DOI： 10.2169/naika.107.95

Publisher：Journal of Dermatology  

DOI： 10.1111/1346-8138.13870

Scopus

PubMed

Publisher：John Wiley & Sons Australia, Ltd  

症例は60歳男性で、便秘、頻尿、起立性めまい、夏の倦怠感などの病歴があり、1年前から無汗症と高熱不耐性がみられるため来院した。発汗試験では、40℃・湿度70%に15分間曝露させても全身の発汗がみられなかった。腹部無汗部分の皮膚生検では、エクリン汗腺の分泌部分周辺に疎な炎症細胞浸潤が見られたが、分泌細胞の変性および表皮内汗管の角栓は見られなかった。血液、髄液、尿検査、血清免疫グロブリンE等の検査も正常範囲であり、CT等の画像検査でも異常所見は認められなかった。自律神経系疾患を疑い、自律神経節アセチルコリン受容体(gAChR)抗体の血清中濃度を測定したところ、血清学的試験でgAChRのα3サブユニットおよびβ4サブユニットの抗体が見られた。これらの所見から自己免疫性自律神経節障害(AAG)と診断した。メチルプレドニゾロンパルス療法後、経口プレドニゾロン、大量免疫グロブリン療法を行ったが無効であった。無汗症はAAGによるものと考えられた。