A case of type I sialidosis presenting with myoclonic seizures
10.3760/cma.j.cn113694-20240810-00539
- VernacularTitle:以肌阵挛发作为主要表现的Ⅰ型唾液酸沉积症1例
- Author:
Peiwen DENG
1
;
Xiaoming RONG
1
;
Hongxuan WANG
1
;
Jingrui PAN
1
;
Ruowei HUANG
1
;
Ying PENG
1
;
Lei HE
1
Author Information
1. 中山大学孙逸仙纪念医院神经内科，广州 510120
- Publication Type:Journal Article
- Keywords:
Mucolipidoses;
Neuraminidase;
Myoclonus;
Ataxia;
Cherry erythema myoclonus syndrome
- From:
Chinese Journal of Neurology
2025;58(2):175-178
- CountryChina
- Language:Chinese
-
Abstract:
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.
