opsoclonus-myoclonus ataxia syndrome

  • 文章类型: Journal Article
    肌阵鸣-肌阵鸣共济失调综合征(OMAS),也被称为Kinsbourne综合征,是一种罕见的疾病,表现为肌阵挛症,共济失调,异常的眼球运动,烦躁,和睡眠中断,通常在年幼的孩子。我们报告了一个只有6个月大的婴儿,没有明显的既往病史,他向急诊室展示了震颤,头部和手臂的剧烈运动,和快速的眼球运动。经过广泛的检查,她被发现患有神经母细胞瘤,随后通过开胸手术切除。尽管切除后症状初步改善,病人的症状复发。她随后接受了地塞米松治疗,静脉注射免疫球蛋白(IVIG),还有利妥昔单抗.治疗后,该患者被发现有轻度的全球性发育迟缓,但其他情况良好。此病例报告强调了在诊断时仅6个月大的婴儿中OMAS的罕见发生。使用PubMed数据库,进行了系统评价以突出临床表现,诊断,和OMAS的管理。
    Opsoclonus-myoclonus ataxia syndrome (OMAS), also known as Kinsbourne syndrome, is a rare disorder that presents with myoclonus, ataxia, abnormal eye movements, irritability, and sleep disruptions, often in young children. We report a case of an infant barely 6 months old, with no significant past medical history, who presented to the emergency department with tremors, jerking motions of the head and arms, and rapid eye movements. After an extensive workup, she was found to have a neuroblastoma, which was subsequently surgically removed via thoracotomy. Despite an initial improvement in symptoms post-resection, the patient\'s symptoms recurred. She was subsequently treated with dexamethasone, intravenous immunoglobulin (IVIG), and rituximab. After treatment, the patient was noted to have mild global developmental delays but was otherwise well. This case report highlights the rare occurrence of OMAS in an infant barely 6 months old at diagnosis. Using the PubMed database, a systematic review was conducted to highlight the clinical presentation, diagnosis, and management of OMAS.
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  • 文章类型: Case Reports
    背景:2019年冠状病毒病(COVID-19)可能有许多神经系统疾病的症状,这些表现的罕见形式之一是眼阵挛性-肌阵挛性共济失调综合征(OMAS)。成人OMAS的发病机制尚未明确阐明,OMAS可能是致命的。
    方法:我们介绍了一名71岁的男性患者,他因手部不自主的震颤样运动而入院,脚和嘴,三天的言语障碍,并随访COVID-19。患者被诊断为OMAS,并开始氯硝西泮治疗。三天后,他因呼吸骤停而死亡。我们的病例是土耳其首例诊断为COVID-19相关OMAS的病例。
    结论:OMAS没有明确的治疗方法。早期诊断和开始糖皮质激素和静脉注射免疫球蛋白(IVIG)治疗,如有必要,可以挽救生命。在具有无法解释的临床表现的COVID-19患者中,对不同和罕见疾病的认识和多学科方法至关重要。
    BACKGROUND: Coronavirus disease 2019 (COVID-19) can have symptoms like many neurological diseases, and one of the rare forms of these presentations is opsoclonus-myoclonus ataxia syndrome (OMAS). The pathogenesis of OMAS in adults has not been clearly elucidated and OMAS can be fatal.
    METHODS: We present a 71-year-old male patient who was admitted to the emergency department with complaints of involuntary tremor-like movements in his hands, feet and mouth, and speech impediment for three days, and was followed up with COVID-19. The patient was diagnosed with OMAS and clonazepam treatment was started. He died three days later due to respiratory arrest. Our case is the first case diagnosed with COVID-19-associated OMAS in Turkey.
    CONCLUSIONS: OMAS has no definitive treatment. Early diagnosis and initiation of corticosteroids and intravenous immunoglobulin (IVIG) therapy, if necessary, can be life-saving. In COVID-19 patients with unexplained clinical findings, awareness of different and rare diseases and a multidisciplinary approach has vital importance.
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  • 文章类型: Case Reports
    The novel coronavirus SARS-CoV-2 (severe acute respiratory syndrome coronavirus-2) is the cause of the COVID-19 pandemic [5]. SARS-Cov-2 demonstrates partial resemblance to SARS-CoV and MERS-CoV in phylogenetic analysis, clinical manifestations, and pathological findings [6, 7]. Reports emerging from China have described ataxia as a neurological symptom of the SARS-CoV-2 infection [5]. Opsoclonus consists of back-to-back multidirectional conjugate saccades without an inter-saccadic interval [8]. Myoclonus is defined as a sudden, brief, \"shock-like\", nonepileptic involuntary movement [9], which has been described as a symptom of SARS-CoV-2 infection [10]. Opsoclonus-Myoclonus-Ataxia syndrome (OMAS) associated COVID-19 infection has been reported recently [1112].
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  • 文章类型: Case Reports
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