A rare case report of Huntington's disease with severe psychiatric symptoms as initial manifestations.

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Psychiatric Genetics Pub Date : 2024-02-01 Epub Date: 2023-12-13 DOI:10.1097/YPG.0000000000000359

Chenling Lv, Zhenzhong Zhang, Yan Zhang, Lin Zhong, Ziqiang Yu, Dengjun Guo

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Abstract

Introduction: Huntington's disease (HD) stands as an inherited and progressive neurodegenerative ailment distinguished by chorea-esque movement patterns, which manifest as archetypal symptoms. The presence of pronounced psychiatric onset symptoms in patients can considerably amplify the intricacies of accurate diagnosis.

Case presentation: A 43-year-old gentleman was admitted with a five-year chronicle of delusions, hallucinations, and irritability. He had previously received a diagnosis of schizophrenia and had been subjected to a regimen of antipsychotic medications for a span exceeding four years. However, subsequent to the application of cerebral MRI and genetic testing, his condition was conclusively redetermined as HD.

Conclusion: The salient attribute of this case resides in the deferred diagnosis of HD attributable to the presence of acute psychiatric initial symptoms, a scenario bearing noteworthy ramifications for disease oversight and prognostication. This instance warrants attentive scrutiny and discourse within the professional community.

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一例罕见的亨廷顿氏病病例报告，最初表现为严重的精神症状。

简介亨廷顿氏病（Huntington's disease，HD）是一种遗传性进行性神经退行性疾病，以舞蹈动作模式为特征，表现为典型症状。如果患者伴有明显的精神症状，则会大大增加准确诊断的复杂性：一位 43 岁的男性患者因妄想、幻觉和易怒入院，病程长达 5 年。他之前曾被诊断为精神分裂症，并接受了长达四年多的抗精神病药物治疗。然而，在进行了脑磁共振成像和基因检测后，他的病情被重新确诊为 HD：本病例的突出特点在于，由于存在急性精神疾病的初始症状，HD 的诊断被推迟，这对疾病的监测和预后产生了值得注意的影响。这一病例值得专业界仔细研究和讨论。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.