Background Sialidosis is an autosomal recessive hereditary disease characterized by the mutation of neuraminidase-1(NEU1)gene,resulting in decreased activity ofα-N-acetylneuraminidase.This leads to metabolic abnormal...Background Sialidosis is an autosomal recessive hereditary disease characterized by the mutation of neuraminidase-1(NEU1)gene,resulting in decreased activity ofα-N-acetylneuraminidase.This leads to metabolic abnormalities in various organs.Sialidosis is classified into two distinct clinical phenotypes,type I and type II,based on the age of onset and severity of clinical manifestations.Case presentation Here,we report a case involving a patient and his two sisters,all of whom showed seizures and ataxia during adolescence,with progressively worsening symptoms.Prior to admission,none of the patients had received a systemic diagnosis or treatment.The whole exome sequencing identified a homozygous NEU1 mutation(NM_000434.3:c.544A>G[p.Ser182Gly])in all three siblings.Their parents and children,who were asymptomatic,were found to be heterozygous carriers.The three patients were ultimately diagnosed with type I sialidosis and treated with antiseizure medications,but they continued to experience recurrent seizures.Conclusions This case report enhances our understanding of sialidosis,particularly in patients presenting with seizures and ataxia.Furthermore,the gene sequencing is a crucial tool for confirming the diagnosis of sialidosis and provides a valuable approach for genetic counseling in affected families.展开更多
基金funded by the Natural Science Foundation of Guangxi(No.2023GXNSFBA026106 and 2024GXNSFAA010107)Guangxi health appropriate technology extension project(S2023017).
文摘Background Sialidosis is an autosomal recessive hereditary disease characterized by the mutation of neuraminidase-1(NEU1)gene,resulting in decreased activity ofα-N-acetylneuraminidase.This leads to metabolic abnormalities in various organs.Sialidosis is classified into two distinct clinical phenotypes,type I and type II,based on the age of onset and severity of clinical manifestations.Case presentation Here,we report a case involving a patient and his two sisters,all of whom showed seizures and ataxia during adolescence,with progressively worsening symptoms.Prior to admission,none of the patients had received a systemic diagnosis or treatment.The whole exome sequencing identified a homozygous NEU1 mutation(NM_000434.3:c.544A>G[p.Ser182Gly])in all three siblings.Their parents and children,who were asymptomatic,were found to be heterozygous carriers.The three patients were ultimately diagnosed with type I sialidosis and treated with antiseizure medications,but they continued to experience recurrent seizures.Conclusions This case report enhances our understanding of sialidosis,particularly in patients presenting with seizures and ataxia.Furthermore,the gene sequencing is a crucial tool for confirming the diagnosis of sialidosis and provides a valuable approach for genetic counseling in affected families.
