Audiological findings in Infantile Refsum disease. Issue 8 (August 2015)

• Record Type: Journal Article
• Authors: Vandana, V.P.; Bindu, Parayil Sankaran; Nagappa, Madhu; Sinha, Sanjib; Taly, Arun B.
• Is Part Of: International journal of pediatric otorhinolaryngology. Volume 79:Issue 8(2015:Aug.)
• Page Start: 1366
• Page End: 1369
• Publication Date: 2015-08
• Subjects: Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Oto-rhino-laryngologie -- Périodiques; Pédiatrie -- Périodiques; 618.9209751
• DOI: 10.1016/j.ijporl.2015.05.023
• Languages: English
• ISSNs: 0165-5876

Abstract

<abstract abstract-type="author" id="abs0005"> <title id="sect0005">Abstract</title> <sec> <p id="spar0005">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.</p> </sec> </abstract>