无樱桃红色斑点的 1 型ialidosis:病例报告和文献综述。

IF 2.1 Q3 CLINICAL NEUROLOGY
BMJ Neurology Open Pub Date : 2024-02-14 eCollection Date: 2024-01-01 DOI:10.1136/bmjno-2023-000498
Congcong Zhang, Zhongkai Liao, Yanhui Zhou, Xiaohui Su
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引用次数: 0

摘要

背景:Sialidosis是一种罕见疾病,由位于染色体6p21.3上的NEU1基因突变引起,是一组常染色体隐性遗传病。酶活性分析、电子显微镜检查和基因检测是可靠的诊断方法。尽管此前已有关于该病的报道,但由于资料有限,其临床表现和预后仍值得关注:我们报告了一例 40 岁女性患者的病例,该患者因持续 16 年的构音障碍加重以及面部和肢体抽搐已持续 2 年而入院。我们对其进行了基因检测:结果:基因检测证实了 I 型硅铝酸盐中毒症,这是中国海南自由贸易港首次报告这种疾病。患者眼底没有典型的樱桃红色斑点。尽管进行了积极的治疗,她还是在两个月后死于癫痫状态。这一结果表明该病的预后较差:讨论:眼底的樱桃红色斑点是 I 型硅铝酸盐中毒症的特征,被称为樱桃红色斑点肌阵挛综合征。我们推测,环境因素也可能起到重要作用。过分强调樱桃红色斑点的存在可能会误导临床医生,延误诊断。此外,出现孤立性肌阵挛的患者应接受视觉诱发电位和体感诱发电位测试以及基因测试,以确认或排除硅烷基糖苷沉着症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sialidosis type 1 without cherry-red spots: a case report and literature review.

Background: Sialidosis is a rare disorder caused by mutations in the NEU1 gene located on chromosome 6p21.3, constituting a group of autosomal recessive diseases. Enzyme activity analysis, electron microscopy examination and genetic testing are reliable methods for diagnosis. Despite previous reports on the disease, its rarity means that its clinical manifestations and prognosis still warrant attention due to the limited amount of information available.

Methods: We report a case of a 40-year-old woman who was admitted to our hospital for worsening dysarthria of 16 years duration and facial and limb twitching that had been present for 2 years. Genetic testing was undertaken.

Results: Genetic testing confirmed type I sialidosis, the first reported instance of this disease in the Hainan Free Trade Port in China. The patient did not have the typical cherry-red spot in the fundus. Despite aggressive treatment, she died of status epilepticus 2 months later. This result indicates that the disease has a poor prognosis.

Discussion: Cherry-red spots in the fundus are characteristic features of type I sialidosis and it has been referred to as the cherry-red spot myoclonus syndrome. We hypothesise that environmental factors may also play a significant role. Overemphasis on the presence of cherry-red spots may mislead clinicians and delay diagnosis. Furthermore, patients presenting with isolated myoclonus should undergo visual evoked potential and somatosensory evoked potential tests, as well as genetic testing to confirm or rule out sialidosis.

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来源期刊
BMJ Neurology Open
BMJ Neurology Open Medicine-Neurology (clinical)
CiteScore
3.20
自引率
3.70%
发文量
46
审稿时长
13 weeks
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