ATP1A2 유전자의 돌연변이를 동반한 소아 교대성 편마비 1예

A case of alternating hemiplegia of childhood associated with de novo mutation in the ATP1A2 gene

Alternating hemiplegia of childhood (AHC) is a neurological disorder characterized by recurrent paroxysmal hemiplegic episodes that involve either or both sides of the body. We experienced AHC with typical clinical features such as recurrent alternating hemiplegia, dystonic spells, abnormal eye movement and developmental delay before 18 months after birth. And we found a heterozygous Ala297Thr variant, missense de novo mutation in the ATP1A2 genetic test. Although AHC is a rare disease, it is expected that the prognosis for development will be good if we are well aware of the characteristics of the disease, perform early diagnosis and management. Here we report a review of the literature, including genetic advances on AHC.