PDF(Pubmed)
Abstract：
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.
摘要：
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。
