Childhood hearing loss is a key feature of CAPOS syndrome: A case report

Int J Pediatr Otorhinolaryngol. 2018 Jan:104:191-194. doi: 10.1016/j.ijporl.2017.11.022. Epub 2017 Nov 22.


CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features.

Keywords: Areflexia; Ataxia; Auditory neuropathy; CAPOS; Hearing loss; Optic atrophy.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / diagnosis*
  • Child
  • Diagnosis, Differential
  • Female
  • Foot Deformities, Congenital / complications
  • Foot Deformities, Congenital / diagnosis*
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / etiology*
  • Hearing Tests
  • Humans
  • Mutation
  • Optic Atrophy / complications
  • Optic Atrophy / diagnosis*
  • Reflex, Abnormal
  • Sodium-Potassium-Exchanging ATPase / genetics


  • ATP1A3 protein, human
  • Sodium-Potassium-Exchanging ATPase

Supplementary concepts

  • CAPOS syndrome