[P3-87] Flunarizine Could be Effective in Late Adulthood for Alternating Hemiplegia of Childhood with a Gly755Ser Mutation in the ATP1A3 Gene
Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by ATP1A3 gene mutations, with clinical severity known to differ according to the genotype. Gly755Ser (G755S) is a low-frequency mutation among AHC cases that was recently associated with a mild phenotype, although the long-term outcomes in patients with this genotype remain unclear due to the short length of follow-up. Herein, we demonstrate the long-term clinical course of a 42-year-old AHC patient with the G755S mutation. This patient showed relatively mild motor dysfunction into her 30s, but subsequent severe aggravation left her bedridden, concomitant with a recurrence of seizures.
We prescribed flunarizine in the initial stages of this patient’s disease, but this treatment was subsequently discontinued because approval for flunarizine was withdrawn in Japan by the Ministry of Health and Welfare when she was 25 years old. On presentation of the worsened symptoms in this patient at 42 years of age, we re-prescribed flunarizine, which stopped her seizures and improved her hemiplagia compared to before the change of treatment. The results in this case suggest that the phenotype of AHC patients showing a G755S mutation will not necessarily be mild throughout life even if that is the case in their younger years, and that flunarizine could be effective in such instances.
We prescribed flunarizine in the initial stages of this patient’s disease, but this treatment was subsequently discontinued because approval for flunarizine was withdrawn in Japan by the Ministry of Health and Welfare when she was 25 years old. On presentation of the worsened symptoms in this patient at 42 years of age, we re-prescribed flunarizine, which stopped her seizures and improved her hemiplagia compared to before the change of treatment. The results in this case suggest that the phenotype of AHC patients showing a G755S mutation will not necessarily be mild throughout life even if that is the case in their younger years, and that flunarizine could be effective in such instances.