A case of school-age-onset Sialidosis type Ⅰ with limbs pain as the initial symptom with literature review
HE Xing-yan
CHEN Chun-ling
ZENG Tian-qian
CHEN Yong-xin
NONG Shao-han
WANG Li-fen
ZHANG Yu-xin
Abstract：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.
Keywords：neuraminidase 1Sialidosis type Ⅰcherry-red spot
Publication Date：2024-09-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：9( 1092-1100 )