TY - T1的次世代测序作为一种工具来协助诊断和加快治疗:< em > RAPSN < / em >先天性肌无力的症状(P2.338) JF -神经学乔-神经学六世- 82 - 10补充SP - P2.338盟艾尔文Das AU -迪米特里Agamanolis盟Bruce Cohen Y1 - 20首页14/04/08 UR - //www.ez-admanager.com/content/82/10_Supplement/P2.338.abstract N2 -目的:我们报告的一个孩子逃的正确诊断由经验丰富的医生全外显子组测序(韦斯)使用次世代技术提供的诊断治疗先天性肌无力的症状(CMS)由RAPSN突变引起的。背景:至少有12个基因参与CMS。CMS不是特定的临床表型和常规神经技术可以提供诊断失败。一些亚型pyridostigmine-responsive,而另一些则恶化的药物。因此,了解特定基因障碍是有益的。病例报告:一个男孩出生与张力减退,面部先天性畸形和关节弯曲。一个姐姐去世几小时的生活相似的表型,和她的肌肉活检显示去神经萎缩。因为通气失败几次住院了。病人的肌肉活检是类似于他的姐姐,和一个神经活检是正常的。有限的遗传评估包括寡核苷酸微阵列没有暴露,和其他诊断研究都是正常的。 After being evaluated by several neurologists and geneticists coupled with the patient’s unremarkable studies, WES was performed. Sequencing identified pathogenic in-trans mutations (c.264 C>A and c.1083_1084dupCT) in the RAPSN gene, which led to the firm diagnosis of a specific CMS subtype; OMIM 608931. Pyridostigmine treatment led to a marked improvement in motor tone and strength with continued improvement over the last six months. CONCLUSIONS: As with other rare childhood neurological conditions, CMS is often difficult to diagnose because of a broad differential diagnosis and lack of specific laboratory findings. Identification of the underlying mutation is critical, as certain mutations lead to treatment-responsive conditions while others do not. This case serves to highlight the importance of WES as a diagnostic tool that will assist in proper diagnosis, and in some circumstances, allow for initiation of specific treatment. WES should be considered as a tool of the practicing neurologist for cases that appear to have a genetic basis and have escaped clinical diagnosis.Disclosure: Dr. Das has nothing to disclose. Dr. Agamanolis has nothing to disclose. Dr. Cohen has received personal compensation for activities with the American Academy of Neurology, Motive Medical Intelligence, Transgenomic Laboratories. Dr. Cohen has received research support from Edison Pharma, and stands to receive research support from Raptor Pharma.Tuesday, April 29 2014, 7:30 am-11:00 am ER -