Audiological findings in Infantile Refsum disease

Area of Science:

• Genetics
• Neurology
• Audiology

Background:

• Infantile Refsum disease (IRD) is a rare, inherited metabolic disorder.
• IRD is characterized by the accumulation of phytanic acid and very long-chain fatty acids.
• Early diagnosis and management are crucial for improving patient outcomes.

Observation:

• A four-year-old child with IRD presented with neuroregression, retinitis pigmentosa, and hearing loss.
• Magnetic resonance imaging revealed white matter signal changes.
• Biochemical tests confirmed elevated serum levels of long-chain fatty acids and phytanic acid.

Findings:

• The child exhibited absent auditory brainstem responses (ABRs) despite robust otoacoustic emissions (OAEs).
• This audiological profile strongly suggests auditory neuropathy as the cause of hearing loss in this patient.
• Audiological manifestations can be a key indicator in the early diagnosis of IRD.

Implications:

• Auditory neuropathy should be considered in the audiological assessment of children with suspected IRD.
• Understanding audiological profiles in IRD can aid in early diagnosis and intervention.
• This case highlights the importance of a multidisciplinary approach in managing rare genetic disorders.