Ⅰ型唾液酸沉积症一例

Sialidosis:a case report

目的探讨Ⅰ型唾液酸沉积症的临床特点及诊断。方法分析1例Ⅰ型唾液酸沉积症患者的临床资料及基因检测。结果患者为12岁女童,10岁时出现肢端疼痛,随后出现进行性行走不稳、视力下降及抽搐发作;眼底检查提示黄斑樱桃红斑。无家族史。应用二代测序方法对全外显子测序,发现患者携带NEU1基因c. 239 C>T(p.P 80 L)和c.544A>G(p.S 182 G)复合杂合突变,分别来自其表型正常母亲和父亲。结论Ⅰ型唾液酸沉积症具有共济失调、肌阵挛发作、视力下降的特点,基因检测对于明确诊断具有重要意义。

Objective To explore the clinical features and diagnosis of sialidosis type I. Method The clinical data and genetic test results of a case with sialidosis were retrospectively analyzed. Results The patient was a 12-year-old girl who presented with limb pain at age 10, followed by progressive ataxia, visual defects and seizure. Fundus examination showed cherry-red spot. Her family history is normal. Whole exome sequencing( WES) was performed which detected compound hetero-zygous likely pathogenic variants c. 239 C>T and c. 544 A>G. The patient's father was heterozygous for the c.544A>G variant in NEU1 and her mother was heterozygous for the c.239C>T variant in NEU1, confirming bi-allelic inheritance. Conclusion Sialidosis type I is a disease characterized by ataxia, myoclonic and visual defects. The definite diagnosis of sialidosis type I depends on WES.