PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■唾液症是一种罕见的疾病，由位于染色体6p21.3上的NEU1基因突变引起，构成一组常染色体隐性遗传疾病。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。尽管以前有关于这种疾病的报道，它的稀有性意味着由于可获得的信息量有限，其临床表现和预后仍然值得关注。
我们报告了一例40岁的妇女，因16年的构音障碍恶化以及2年的面部和肢体抽搐而入院。进行了基因检测。
■基因检测证实I型唾液中毒，在中国海南自由贸易港首次报道这种疾病。患者眼底没有典型的樱桃红色斑点。尽管积极治疗，2个月后她死于癫痫持续状态.该结果表明该疾病具有不良预后。
■眼底的樱桃红斑是I型唾液中毒的特征性特征，被称为樱桃红斑肌阵挛症。我们假设环境因素也可能发挥重要作用。过分强调樱桃红色斑点的存在可能会误导临床医生并延迟诊断。此外，出现孤立性肌阵挛症的患者应进行视觉诱发电位和体感诱发电位测试，以及基因检测以确认或排除唾液中毒。
我们报告了一例40岁的妇女，因16年的构音障碍恶化以及2年的面部和肢体抽搐而入院。进行了基因检测。
■基因检测证实I型唾液中毒，在中国海南自由贸易港首次报道这种疾病。患者眼底没有典型的樱桃红色斑点。尽管积极治疗，2个月后她死于癫痫持续状态.该结果表明该疾病具有不良预后。
■眼底的樱桃红斑是I型唾液中毒的特征性特征，被称为樱桃红斑肌阵挛症。我们假设环境因素也可能发挥重要作用。过分强调樱桃红色斑点的存在可能会误导临床医生并延迟诊断。此外，出现孤立性肌阵挛症的患者应进行视觉诱发电位和体感诱发电位测试，以及基因检测以确认或排除唾液中毒。
