Three young adult patients with Pelizaeus–Merzbacher disease who showed only waves I and II in auditory brainstem responses but had good auditory perception

Abstract

Three young adult males with Pelizaeus–Merzbacher disease have been followed up since childhood. This disease is thought to be a dysmyelinating disorder of the brain during the prenatal period caused by gene mutations. The patients manifested horizontal nystagmus and severe rigidity of the extremities. Although the patients showed only waves I and II in auditory brainstem responses, they had relatively good hearing ability at ≈30 dB. They could not speak words at all but could hear well and enjoy listening to conversation and music. One of them had a normal hearing threshold in pure-tone audiometry and a normal speech discrimination rate in speech audiometry. This can be explained by a nerve conduction blockade through dysmyelinated axons or the desynchronization of neurons and nerves responsible for the waves following waves I and II. At present, all three patients are living with their families. We report their present hearing, speech and language abilities.

• Auditory brainstem response
• dysmyelination
• MRI
• Pelizaeus–Merzbacher disease