以肌阵挛发作为主要表现的Ⅰ型唾液酸沉积症1例  

A case of type Ⅰ sialidosis presenting with myoclonic seizures

作　　者：邓佩雯 容小明[1] 王鸿轩[1] 潘经锐[1] 黄若薇 彭英[1] 何蕾[1] Deng Peiwen;Rong Xiaoming;Wang Hongxuan;Pan Jingrui;Huang Ruowei;Peng Ying;He Lei(Department of Neurology,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院神经内科,广州510120

出　　处：《中华神经科杂志》2025年第2期175-178,共4页Chinese Journal of Neurology

基　　金：国家自然科学基金(81502552)。

摘　　要：通过报道1例漏诊5年的NEU1基因纯合突变引起的Ⅰ型唾液酸沉积症(ST-1)患者的临床特点及诊疗经过,以提高临床对该病的认识。患者女性,16岁,发作性四肢抖动5年余,意识不清伴四肢抽搐1次。于外院多次行脑电图检查未见异常,头颅磁共振成像(MRI)提示大致正常,多种抗癫痫药物治疗不能有效控制发作,症状逐渐加重。入院后发现患者伴有易摔跤、视力下降症状,且存在眼震及共济失调的体征,复查脑电图可见广泛棘慢复合波,头颅MRI可见小脑萎缩,进一步通过全外显子基因检测结果显示NEU1基因存在c.544A>G纯合突变,诊断为ST-1,予左乙拉西坦片、氯硝西泮改善症状,后睡眠较前改善,肌阵挛明显减少。对于反复发作性肌阵挛、共济失调、视力障碍且不伴有认知障碍的患者应注意唾液酸沉积症的可能,基因检测对唾液酸沉积症的诊断具有重要作用。The clinical characteristics,diagnosis and treatment process of a patient with type Ⅰ sialidosis(ST-1)caused by a homozygous mutation in the NEU1 gene who was missed diagnosis for 5 years were retrospectively analyzed to improve the understanding of the disease.A 16-year-old female patient presented with episodic limb shaking for more than 5 years and single generalised tonic-clonic seizure.Electroencephalogram(EEG)tests conducted at external hospital did not show any abnormalities,and head magnetic resonance imaging(MRI)showed general normality.Multiple antiepileptic drugs could not control the attack and the symptoms gradually worsened.After admission,the patient was found to have symptoms of easy wrestling and decreased vision,as well as signs of nystagmus and ataxia.The reexamination of the EEG showed extensive spike-and-slow complexes,and the brain MRI showed cerebellar atrophy.Furthermore,the whole-exome gene testing revealed the c.544A>G homozygous mutation in the NEU1 gene,leading to the diagnosis of sT-1.Levetiracetam tablets and clonazepam were given to improve the patient's symptoms.During the follow-up,sleep improved compared to before,and myoclonus was significantly reduced.Therefore,patients with recurrent myoclonus,ataxia,and visual impairment without cognitive impairment should be aware of the possibility of sialidosis.Genetic testing plays an important role in the diagnosis of sialidosis.

关 键 词：黏脂质累积病 神经氨酸酶 肌阵挛 共济失调 樱桃红斑肌阵挛综合征 

分 类 号：R596.1[医药卫生—内科学]