Development of speech and hearing of two children with Pelizaeus-Merzbacher disease presenting only waves I and II of the auditory brainstem response

Abstract

Pelizaeus-Merzbacher disease (PMD) is a white matter dystrophy of the brain. Most children with PMD require comprehensive nursing care. Their speech and language abilities are poor or absent. Therefore, evaluating hearing ability is difficult in children with PMD. We have followed up two patients with PMD since early childhood. Patient 1 is an 11-year-old boy, and patient 2 is a 15-year-old adolescent boy in whom horizontal nystagmus was recognized after birth. Magnetic resonance imaging showed diffuse dysmyelination of the cerebral white matter. Auditory brainstem response recordings showed only waves I and II and the absence of all subsequent components. However, conditioned orientation reflex audiometry showed a threshold of 20–30 dB. Both patients can converse orally and have auditory perception and speech abilities better than those of most patients with PMD in the literature. We report on the development of their hearing and speech abilities.

Keywords::

• Language
• audiometry
• white matter dystrophy

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.