A case report of SCN8A-related infantile spasm and literature review / 中华实用儿科临床杂志

ABSTRACT

To study the clinical features, diagnosis, and treatment of SCN8 A-related infantile spasm, one 21-month-boy identified a de novo mutation of SCN8 A-related infantile spasm was admitted to West China Second University Hospital, Sichuan University in September 2019 and was enrolled as a research subject.The clinical manifestation and diagnosis process were analyzed by carrying out the retrospective analysis method.This case is the first report on SCN8 A-related infantile spasm in China.This child had hiatal hernia, which has never been reported in SCN8 A gene mutation people.The boy shows marked developmental regression after the onset of seizures at 8-month-old, and a variety of antiepileptic drugs are ineffective.Recently, seizure types have changed into infantile spasm.Levetiracetam was stopped, and provided adrenocorticotropic hormone (ACTH). After treatment, the spasm was relieved.Hiatal hernia may be a phenotype of SCN8 A gene mutation.Sodium channel blockers display high efficacy in SCN8 A-related epilepsy.ACTH therapy for SCN8 A-related infantile spasm is effective.