title: Audiological findings in Infantile Refsum disease.
abstract: 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.
authors.affiliation: Department of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: vpvandana@gmail.com.
authors.forename: V P
authors.initials: VP
authors.lastname: Vandana
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: drpsbindu@yahoo.co.in.
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: madhu_nagappa@yahoo.co.in.
authors.forename: Madhu
authors.initials: M
authors.lastname: Nagappa
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: sanjib_sinha2004@yahoo.co.in.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. Electronic address: abtaly@yahoo.com.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
mesh_terms: D002675:Child, Preschool; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000209:etiology; D006320:Hearing Tests; D006801:Humans; D008297:Male; D052919:Refsum Disease, Infantile / Q000150:complications*
keywords: Audiological findings; Infantile Refsum disease; Peroxisomal biogenesis disorder