Acute dystonia in a patient with 22q11.2 deletion syndrome
Acute dystonia in a patient with 22q11.2 deletion syndrome
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DOI：
10.4081/mi.2015.5902
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发表时间：
2015-01-01
期刊：
影响因子：
6.3
通讯作者：
Papageorgiou, Charalambos C.
中科院分区：
文献类型：
--
作者：
Kontoangelos, Konstantinos;Maillis, Antonis;Papageorgiou, Charalambos C.
22q11.2缺失综合征(di George综合征)是最常见的遗传性疾病之一。该综合征的临床特征为明显的面部外观、腭咽闭合不全、圆锥干心脏病、甲状旁腺和免疫功能障碍，但对可能的神经退行性疾病知之甚少。我们描述了一例患有22q11.2缺失综合征的18岁患者。从青春期开始，他就出现了行为障碍，推荐使用2毫克的苦杏仁碱治疗，并出现颈椎肌张力障碍、斜颈和躯干肌张力障碍。抗精神病药物要么加速，要么表现出肌张力障碍症状。
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune dysfunction; however, little is known about possible neurodegenerative diseases. We describe the case of an 18-year old patient suffering from 22q11.2 deletion syndrome. Since adolescence, he presented with behavioral disorders, recommended treatment with 2 mg aloperidin and he presented cervical dystonia and emergence of torticollis and trunk dystonia. Antipsychotic medications either accelerate or reveal dystonic symptoms.