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一名被误诊为转换障碍的患者的亨廷顿舞蹈症

Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.

作者信息

Nogueira João Machado, Franco Ana Margarida, Mendes Susana, Valadas Anabela, Semedo Cristina, Jesus Gustavo

机构信息

Department of Psychiatry and Mental Health, Setúbal Hospital Center, Rua Camilo Castelo Branco, 2910-446 Setúbal, Portugal.

Department of Neurology, Setúbal Hospital Center, Rua Camilo Castelo Branco, 2910-446 Setúbal, Portugal.

出版信息

Case Rep Psychiatry. 2018 Feb 18;2018:3915657. doi: 10.1155/2018/3915657. eCollection 2018.

Abstract

Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington's disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

摘要

亨廷顿舞蹈症(HD)是一种遗传性、进行性神经退行性神经精神疾病,由4号染色体上感兴趣转录本(IT)15基因中的胞嘧啶-腺嘌呤-鸟嘌呤(CAG)三核苷酸扩增引起。这种病症通常出现在30至50岁的个体中,发病年龄与CAG重复扩增的长度呈负相关。其特征为舞蹈症、认知缺陷和精神症状。通常精神障碍先于运动和认知障碍出现,其中重度抑郁症和焦虑症最为常见。我们报告一例65岁女性入住我院精神科急症病房的临床病例。在入院前的6年里,患者多次接受不同专科的临床评估,这些评估仅关注孤立症状,而忽略了整个综合征。在她最后一次入院期间,患者被转介至我们的神经精神科团队,该团队做出了迟发性亨廷顿舞蹈症的初步诊断,后来经基因检测得以证实。这个临床案例突出了多学科方法对于非典型临床表现的重要性,并提高了对仔细调查精神科患者运动症状相关性的认识。

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Huntington's Disease-Update on Treatments.亨廷顿病的治疗进展。
Curr Neurol Neurosci Rep. 2017 Apr;17(4):33. doi: 10.1007/s11910-017-0739-9.
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Late onset Huntington's disease with 29 CAG repeat expansion.具有29个CAG重复序列扩增的晚发性亨廷顿舞蹈症。
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