PT -期刊文章盟迈克尔DiSano AU -尼尔·弗里德曼盟苏米特•帕里克以TI -威尔逊疾病的不同寻常的演讲在儿科病人:病例报告(P2.089) DP - 2018年4月10 TA -神经病学PG - P2.089 VI - 90 IP - 15补充4099 - //www.ez-admanager.com/content/90/15_Supplement/P2.089.首页short 4100 - //www.ez-admanager.com/content/90/15_Supplement/P2.089.full所以Neurology2018 4月10;90 AB -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。 Examination was notable for flat affect, disinhibition, and findings localizing to the cerebellum with choppy smooth pursuits on extra-ocular movements without nystagmus, motor impersistence, dysmetria, ataxia, wide-based shuffling gait, positive Romberg, and inability to perform stress gaits. There was no choreoathetosis or dystonia though the patient had dysarthria with odd slow, halting speech. 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.

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