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一名被误诊为脑瘫的儿童的多巴反应性肌张力障碍

Dopa-responsive Dystonia in a Child Misdiagnosed as Cerebral Palsy.

作者信息

Kulshreshtha Dinkar, Maurya Pradeep K, Singh Ajai K, Thacker Anup K

机构信息

Department of Neurology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

出版信息

J Pediatr Neurosci. 2017 Apr-Jun;12(2):172-173. doi: 10.4103/jpn.JPN_123_16.

DOI:10.4103/jpn.JPN_123_16
PMID:28904579
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5588646/
Abstract

Dopa-responsive dystonia also known as "Segawa's syndrome" was first described in 1976. The dystonia typically shows diurnal variations and is more marked toward the end of the day and improves in sleep. This entity is often misdiagnosed in the clinical setting, mostly due to the lack of awareness, and these patients are exposed to various treatment regimens and nonpharmacological measures. We present a boy being treated as dystonic cerebral palsy who showed significant improvement in dystonic symptoms with L-dopa therapy.

摘要

多巴反应性肌张力障碍也被称为“泽川综合征”,于1976年首次被描述。这种肌张力障碍通常表现出日变化,在一天结束时更为明显,睡眠时改善。在临床环境中,这个病症常常被误诊,主要是由于认识不足,这些患者接受了各种治疗方案和非药物措施。我们报告一名被当作肌张力障碍型脑瘫治疗的男孩,他在接受左旋多巴治疗后肌张力障碍症状有显著改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/087d/5588646/4cc53c52a046/JPN-12-172-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/087d/5588646/4cc53c52a046/JPN-12-172-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/087d/5588646/4cc53c52a046/JPN-12-172-g001.jpg

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1
Dopa-responsive Dystonia in a Child Misdiagnosed as Cerebral Palsy.一名被误诊为脑瘫的儿童的多巴反应性肌张力障碍
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Dopa responsive dystonia with diurnal fluctuation (Segawa's syndrome).伴有日间波动的多巴反应性肌张力障碍(Segawa综合征)。
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引用本文的文献

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Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother.多巴反应性肌张力障碍:一名男性患者从无症状母亲那里遗传了一种新的GCH1基因缺失。
J Mov Disord. 2020 May;13(2):150-153. doi: 10.14802/jmd.19069. Epub 2020 Mar 18.
2
Metabolic and genetic disorders mimicking cerebral palsy.模仿脑瘫的代谢和遗传疾病。
Neurosciences (Riyadh). 2019 Jul;24(3):155-163. doi: 10.17712/nsj.2019.3.20190045.
3
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.GCH1 基因突变的复合杂合子代表了一种非典型多巴胺反应性肌张力障碍病例。

本文引用的文献

1
Clinical spectrum of dopa-responsive dystonia and related disorders.多巴反应性肌张力障碍及相关疾病的临床谱
Curr Neurol Neurosci Rep. 2014 Jul;14(7):461. doi: 10.1007/s11910-014-0461-9.
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Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.再探多巴反应性肌张力障碍:诊断延迟、残留体征及非运动体征
Arch Neurol. 2012 Dec;69(12):1558-62. doi: 10.1001/archneurol.2012.574.
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A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
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一例伴有GTP环化水解酶I(GCH1)基因新突变的迟发性Segawa综合征(常染色体显性遗传性多巴反应性肌张力障碍)。
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Hereditary progressive dystonia with marked diurnal fluctuation.伴有明显日波动的遗传性进行性肌张力障碍
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