Pelizaeus Merzbacher disease: morphological analysis of the vestibulo-cochlear system

Abstract

Conclusion: In agreement with previously published findings, our results demonstrate that Pelizaeus Merzbacher disease (PMD) does not affect the development and morphology of the peripheral vestibulo-cochlear system. Objective: PMD is a consequence of X-linked mutation of the main central nervous system (CNS) myelin protein resulting in a complex neurological syndrome. Otorhinolaryngological symptoms include nystagmus and alterations of auditory-evoked brainstem responses. To date no histopathological analysis of the inner ear has been performed. Materials and methods: The temporal bone morphology of an affected fetus was examined with light microscopy and synchrotron radiation-based micro computed tomography. Results: The regular structure of the vestibulo-cochlear system was shown in this multi-modular analysis.