Childhood fever and hearing loss associated with CAPOS syndrome.

Auris Nasus Larynx

Department of Otorhinolaryngology - Head and Neck Surgery, Iwate Medical University, 2-1-1, Nishitokuda, Yahaba-cho, Shiwa-gun, Iwate 238-3694, Japan.

Published: August 2024

AI Article Synopsis

  • CAPOS syndrome is a rare genetic disorder linked to a specific mutation in the ATP1A3 gene, characterized by symptoms like cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.
  • The case describes a patient who experienced recurring fevers leading to hearing difficulties around age 74 months, marking a decline in his previously acquired speech.
  • Genetic testing confirmed the ATP1A3 mutation, and the study found that the different responses in auditory tests (ABR and ASSR) were due to the mutation causing desynchronization in neural firing.

Article Abstract

CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is a rare genetic disorder caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. CAPOS syndrome involves a characteristic episode in which neuropathy develops after a fever in childhood, and here, we describe the case of a patient with CAPOS syndrome. The patient had repeated episodes of a fever around 74 months of age. Although he could speak at 23 months of age, he presented with hearing difficulty after the fever. Pure-tone audiometry revealed moderate-to-severe bilateral sensorineural hearing loss, and auditory brainstem response (ABR) showed poor response in the both ears. Auditory stead-state response (ASSR) produced relatively consistent results compared to pure-tone audiometry. A mutation in the ATP1A3 gene was detected through genetic testing. In CAPOS syndrome, a genetic mutation leads to desynchronization during neural firing. We believe that this desynchronization in neural firing is responsible for the lack of response in the ABR and the presence of a response in the ASSR. In this patient, we attribute the response detection in ASSR to its greater tolerance for errors in the timing of neural firing compared to ABR.

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Source
http://dx.doi.org/10.1016/j.anl.2024.04.004DOI Listing

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