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


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.
Schmutzhard
Joachim
J
Department of Otorhinolaryngology, Innsbruck Medical University, Austria.
Schwentner
Ilona
I
Glueckert
Rudolf
R
Sergi
Consolato
C
Beckmann
Felix
F
Abraham
Irene
I
Riechelmann
Herbert
H
Schrott-Fischer
Annelies
A
Müller
Bert
B
D037881:Aborted Fetus / Q000000981:diagnostic imaging / Q000473:pathology; D000328:Adult; D004423:Ear / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D020371:Pelizaeus-Merzbacher Disease / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D013701:Temporal Bone / Q000000981:diagnostic imaging / Q000473:pathology*; D055114:X-Ray Microtomography