Audiological findings in Infantile Refsum disease

Int J Pediatr Otorhinolaryngol. 2015 Aug;79(8):1366-9. doi: 10.1016/j.ijporl.2015.05.023. Epub 2015 May 30.


Audiological manifestations in a four-year-old child with Infantile Refsum disease are reported. He was born to non-consanguineous parents and had normal birth history and mildly delayed milestones prior to presentation. Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging. Biochemical evaluation showed elevated serum levels of long chain fatty acid and phytanic acid confirming the diagnosis. The audiological profile was characterized by absent auditory brainstem responses with robust otocoustic emissions, which indicated auditory neuropathy as the possible cause of hearing loss.

Keywords: Audiological findings; Infantile Refsum disease; Peroxisomal biogenesis disorder.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / etiology
  • Hearing Tests
  • Humans
  • Male
  • Refsum Disease, Infantile / complications*