TY -的T1 -威尔逊疾病的不同寻常的演讲在儿科病人:病例报告(P2.089) JF -神经学乔-神经学六世- 90 - 15补充Michael DiSano SP - P2.089盟盟——尼尔·弗里德曼盟首页——苏米特•帕里克以Y1 - 2018/04/10 UR - //www.ez-admanager.com/content/90/15_Supplement/P2.089.abstract N2 -目的:回顾的一个不寻常的主要神经在儿科病人的威尔逊疾病。背景:威尔逊铜代谢的病是一种遗传性疾病,影响儿童和成人,典型表现为神经精神症状和/或肝铜沉积造成的。诊断与临床结果的组合包括存在Keyser-Flescher (KF)环和生化ATP7B基因的测试和确认测试。神经系统症状包括舞蹈手足徐动症、肌张力障碍、测距不准、共济失调、构音障碍。精神症状包括情绪障碍、行为变化包括强迫性或抑制解除。KF戒指出现在大约90%的患者神经精神症状。儿科患者通常表现为肝症状,很少出现神经精神症状。治疗是螯合铜(维斯,GeneReviews, 2016)。设计/方法:NAResults:我们现在的一个10岁的女孩,亚急性发作的构音障碍和共济失调。考试对平的影响是显著的,去抑制,发现本地化与波涛汹涌的光滑追求小脑extra-ocular运动没有眼球震颤,汽车impersistence测距不准,共济失调,慵懒wide-based步态,积极的伯格,无法执行压力步态。虽然没有舞蹈手足徐动症或肌张力障碍患者有构音障碍奇慢,停止讲话。 Lab work revealed elevated transaminases. Neuroimaging was unremarkable, and ophthalmologic exam did not reveal KF rings. Ceruloplasmin and serum and urinary copper screening were concerning for Wilson disease. Diagnosis was confirmed on ATP7B sequencing for the presence of two pathologic variants, c.3955C>T. Liver biopsy demonstrated elevated copper content. Treatment with oral zinc was initiated, and she had rapid improvement of neurologic symptoms, became ambulatory within a few weeks, with an almost complete return to baseline within a few months.Conclusions: This case presentation demonstrates a unique presentation of Wilson disease in a child with predominantly neuropsychiatric symptoms that responded to therapy.Disclosure: Dr DiSano has nothing to disclose. Dr. Friedman has nothing to disclose. Dr. Parikh has nothing to disclose. ER -