Temporal bone histopathologic findings in a case of interstitial deletion of the long arm of chromosome 2 [del(2) (q31q33)].
The temporal bones of a 24-day-old female neonate with an interstitial deletion of the long arm of chromosome 2 [del(2)(q31q33)] were studied histopathologically, focusing mainly on the inner ear. This is, to our knowledge, the first report of a temporal bone study in a case of this chromosomal aberration. The abnormalities included a shortened cochlea with underdeveloped modiolus in both ears. Total absence of the spiral ganglion cells and the cochlear nerve bundle, accompanied by obliteration of the fundus of the internal auditory meatus by a bony plate, and dislocation of some geniculate ganglion cells to the internal auditory meatus were also observed in the right ear. The absence of the spiral ganglion cells is considered to be the result of some complication in the early fetal life, such as dysgenesis or early degeneration of the neuronal cells. The organ of Corti in the right ear was well-developed and preserved in the middle turn, suggesting that the differentiation of the cochlear sensory epithelium in humans is not dependent upon the innervation, at least on the gross level.
Kondo
K
K
Department of Otolaryngology, Faculty of Medicine, University of Tokyo, Japan.
Kaga
K
K
Ogawa
Y
Y
Fukushima
Y
Y
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003051:Cochlea / Q000002:abnormalities; D003056:Cochlear Nerve / Q000002:abnormalities; D004424:Ear Canal / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013136:Spiral Ganglion / Q000002:abnormalities / Q000473:pathology; D013701:Temporal Bone / Q000473:pathology*