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Typical clinical findings should prompt investigation for juvenile Huntington disease

机译:典型的临床发现应及时调查青少年亨廷顿病

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摘要

An 11-year-old boy presented for neurological evaluation with a 5-year history of global developmental regression, abnormal involuntary movements, and worsening behavioral problems. He was adopted at 14 months of age and there was limited prenatal or family history. In early childhood, he had appropriate gross motor, fine motor, and language development, but "shakiness" was noted by his adoptive parents. In first grade, he was able to ride a bicycle, participate in gym class, dress himself, use utensils, write in cursive, and read at grade level. Since that time, a slow regression of fine motor, gross motor, and language skills was noted. His handwriting became illegible and he was having difficulty dressing himself. He walked on the edges of his feet and was no longer able to ride a bicycle or run without difficulty. His speech became unintelligible to strangers at the age of 9 years and he had significant difficulty with impulse control and memory. There was no known history of seizures. He had multiple involuntary movements of his arms and hands, such as hand-curling or arm-swinging, and had received the diagnosis of Tourette syndrome. He was under treatment with risperidone, cit-alopram, and clonidine for his involuntary movements without significant benefit.
机译:一个11岁的男孩接受了5年的全球发育退化,不自主运动异常和行为问题恶化的神经病学评估。他于14个月大时被收养,产前或家族史有限。在幼儿期,他有适当的大运动能力,精细运动能力和语言发展能力,但养父母却注意到他的“颤抖”。在一年级的时候,他能够骑自行车,参加体育课,打扮自己,使用用具,草书写和在年级阅读。从那时起,人们注意到精细运动,总运动和语言能力的缓慢下降。他的笔迹变得难以辨认,并且他在打扮方面遇到困难。他走在脚的边缘,不再能够骑自行车或无障碍奔跑。 9岁那年他的演讲对陌生人来说是难以理解的,他在冲动控制和记忆方面也遇到了很大困难。没有癫痫发作史。他的手臂和手有多种不自主运动,例如弯腰或挥臂,并已被诊断为图雷特综合症。他因其非自愿运动而接受利培酮,cit-alopram和可乐定治疗,但无明显益处。

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