Fever-related ataxia: a case report of CAPOS syndrome.

Ida StenshorneMagnhild RasmussenPanagiotis SalvanosChantal M E TallaksenLaurence A BindoffJeanette Koht
Published in: Cerebellum & ataxias (2019)
This is the first Norwegian patient reported with CAPOS syndrome. Our patient had a de novo, previously identified ATP1A3 mutation. The combination of recurrent episodes of fever related ataxia, loss of motor skills in early childhood, and early onset hearing and vision loss is typical of CAPOS syndrome. Previous reports suggest a gradual progression of the disease after the initial episodes, while this patient showed a good outcome with improvement of motor skills from adolescence long after the last deterioration episode.