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OACSTPCD

Objective To investigate the clinical characteristics and diagnosis of Sialidosis Type Ⅰ caused 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 Type Ⅰ in September 2023 were analyzed,focusing on her initial symptom of distal peripheral neuropathy at the age of 9 and subsequent gait in-stability 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 re-vealed 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 Type Ⅰ(ST-1)have only been identified in the Chinese population.Distal periph-eral 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.