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首页> 外文期刊>Annals of Indian Academy of Neurology >A case of congenital myopathy masquerading as paroxysmal dyskinesia
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A case of congenital myopathy masquerading as paroxysmal dyskinesia

机译：一例先天性肌病伪装为阵发性运动障碍

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摘要

Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented, possibility of dyskinesia was kept. However, when he did not respond to symptomatic therapy, Sandifer syndrome was thought of and GER scan was done, which revealed severe GER. After his symptoms got reduced to some extent, a detailed clinical examination revealed abnormal facies with flaccid quadriparesis. Muscle biopsy confirmed the diagnosis of a specific congenital myopathy. On antireflux measures, those episodic paroxysms reduced to some extent. Partial response to therapy in GER should prompt search for an underlying secondary etiology.
机译：胃食管反流（GER）疾病是神经肌肉疾病的重大合并症。它可能表现为阵发性运动障碍，称为桑迪弗综合症。自出生22天以来，一个6周大的新生儿表现出非常频繁的阵发性发作，全身僵硬和轻瘫。这些最初被诊断为癫痫发作，他开始使用多种抗癫痫药治疗，但未显示任何反应。在记录了正常的视频脑电图（VEEG）之后，保留了运动障碍的可能性。但是，当他对症治疗无反应时，就想到了桑迪弗综合症，并进行了GER扫描，结果显示出严重的GER。在他的症状减轻到一定程度后，详细的临床检查发现异常的面部伴松弛的四肢瘫痪。肌肉活检证实了特定先天性肌病的诊断。在抗反流措施中，那些阵发性阵发性疾病在某种程度上有所减轻。 GER的部分治疗反应应提示寻找潜在的继发病因。

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