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患有精神症状的青少年亨廷顿病患者的治疗困境

Treatment Dilemma in Juvenile Huntington's Patient Presenting with Psychiatric Symptoms.

作者信息

Öksüz Nevra, Kömür Mustafa, Doğu Okan

机构信息

Mersin University School of Medicine, Department of Neurology, Mersin, Turkey.

Mersin University School of Medicine, Department of Child Neurology, Mersin, Turkey.

出版信息

Noro Psikiyatr Ars. 2023 Feb 20;60(1):87-89. doi: 10.29399/npa.28058. eCollection 2023.

Abstract

The Westphal variant of Huntington's disease (HD) is a progressive neurodegenerative disease characterized by a rigid-hypokinetic syndrome rather than choreiform movements. This variant is a distinct clinical entity of HD and is often associated with a juvenile onset of the disease. We present the case of a 13-year-old patient diagnosed with the Westphal variant with an onset at approximately 7 years of age and primarily exhibited developmental delay and psychiatric symptoms. In the light of findings from both physical and clinical examinations, possible difficulties in the diagnosis and treatment of juvenile HD are discussed in here.

摘要

亨廷顿舞蹈病(HD)的韦斯特法尔变异型是一种进行性神经退行性疾病,其特征为强直 - 运动减少综合征而非舞蹈样动作。这种变异型是HD的一种独特临床实体,常与疾病的青少年发病相关。我们报告一例13岁患者,被诊断为韦斯特法尔变异型,发病年龄约为7岁,主要表现为发育迟缓及精神症状。根据体格检查和临床检查结果,本文讨论了青少年HD诊断和治疗中可能存在的困难。

相似文献

4
[Familial Westphal variant of Huntington's disease. Case report].
Neurol Neurochir Pol. 2007 Jan-Feb;41(1):89-92.
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Huntington's disease in children.儿童亨廷顿舞蹈症
Handb Clin Neurol. 2013;113:1913-7. doi: 10.1016/B978-0-444-59565-2.00061-7.

本文引用的文献

1
MRI findings in juvenile Huntington's disease.青少年型亨廷顿舞蹈病的磁共振成像表现
Radiol Case Rep. 2020 Nov 6;16(1):113-115. doi: 10.1016/j.radcr.2020.10.041. eCollection 2021 Jan.
4
The Neuropsychology of Huntington's Disease.亨廷顿舞蹈症的神经心理学
Arch Clin Neuropsychol. 2017 Nov 1;32(7):876-887. doi: 10.1093/arclin/acx086.
5
Genetics of Huntington disease.亨廷顿舞蹈症的遗传学
Handb Clin Neurol. 2017;144:3-14. doi: 10.1016/B978-0-12-801893-4.00001-8.
8
Managing juvenile Huntington's disease.治疗青少年型亨廷顿舞蹈症。
Neurodegener Dis Manag. 2013 Jun 1;3(3). doi: 10.2217/nmt.13.18.

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