学龄期以肢端末梢神经痛为首发症状的唾液酸沉积症Ⅰ型1例和文献复习

A case of school-age-onset Sialidosis typeⅠwith limbs pain as the initial symptom with literature review.

目的探讨基因位点c.544A>G(p.Ser182Gly)、c.239C>T(p.Pro80Leu)的复合杂合突变所致的唾液酸沉积症Ⅰ型的临床特点及诊断。方法分析2023年9月入院的1例14岁以肢端末梢神经痛起病的唾液酸沉积症Ⅰ型患者的临床资料及基因检测等结果并结合文献复习进行分析。结果患者为14岁女童,9岁起肢端末梢神经痛,13岁起行走不稳。眼底检查见黄斑樱桃红斑。无家族史。应用二代测序方法对全外显子测序,发现患者携带溶酶体唾液酸酶1(neuraminidase1,NEU1)基因c.544A>G(p.Ser182Gly)、c.239C>T(p.Pro80Leu)复合杂合突变,分别来自其表型正常母亲和父亲。结论c.544A>G(p.Ser182Gly)、c.239C>T(p.Pro80Leu)的复合杂合突变所致的Ⅰ型唾液酸沉积症(sialidosis typeⅠ,ST-1)目前仅在中国人群中发现,肢端末梢神经痛可为首发症状。常见临床特点为共济失调、肌阵挛发作、视物模糊和眼底检查见樱桃红斑等,眼底检查可以作为首选的临床辅助手段,基因检测对于其明确诊断具有重要意义。

Objective To investigate the clinical characteristics and diagnosis of Sialidosis TypeⅠcaused by compound heterozygous mutations in the gene loci c.544A>G(p.Ser182Gly)and c.239C>T(p.Pro80Leu).Methods Clinical data and genetic testing results of a 14-year-old patient diagnosed with Sialidosis TypeⅠin September 2023 were analyzed,focusing on her initial symptom of distal peripheral neuropathy at the age of 9 and subsequent gait instability at 13.A literature review was conducted to provide context.Results The patient is a 14-year-old girl who began experiencing distal peripheral neuropathy at 9 years old and developed gait instability at 13.Fundus examination revealed a cherry-red spot in the macula.There was no family history of the condition.Whole-exome sequencing via next-generation sequencing identified the patient as a carrier of compound heterozygous mutations in the NEU1 gene,with the mutations c.544A>G(p.Ser182Gly)and c.239C>T(p.Pro80Leu)inherited from her phenotypically normal mother and father,respectively.Conclusion The compound heterozygous mutations c.544A>G(p.Ser182Gly)and c.239C>T(p.Pro80Leu)causing Sialidosis TypeⅠ(ST-1)have only been identified in the Chinese population.Distal peripheral neuropathy can be the initial symptom.Common clinical features include ataxia,myoclonic seizures,blurred vision,and a cherry-red spot observed during fundus examination,which can serve as a primary clinical auxiliary tool.Genetic testing plays a crucial role in confirming the diagnosis.