Back to Search
Start Over
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.
- Source :
-
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2001 Mar; Vol. 22 (2), pp. 170-7. - Publication Year :
- 2001
-
Abstract
- Background: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles.<br />Patient and Methods: The authors report inner ear histopathologic findings of a deceased 13-year-old patient with COFS. A histologic study of the inner ear in COFS syndrome has not yet been described. This patient was documented as having a profound bilateral sensorineural hearing loss at the age of 2 years.<br />Results: Histologic evaluation revealed accelerated neural and neuronal degeneration at the cochlear and retrocochlear levels. Remaining myelinated nerve fibers, counted in the spiral lamina, had degenerated by up to 97% when compared with normal innervation densities. Afferent nerve fibers innervating inner hair cells were completely absent, whereas medial efferent fibers to outer hair cells were found. Vestibular nerve fibers were less affected.<br />Conclusion: The authors report inner ear findings that differ from animal models of primary cochlear neural degeneration and that resemble the pattern of hereditary cochlear nerve degeneration reported in Friedreich's ataxia.
- Subjects :
- Abnormalities, Multiple pathology
Adolescent
Axons pathology
Child
Female
Hearing Loss, Sensorineural diagnosis
Hearing Loss, Sensorineural etiology
Humans
Intellectual Disability complications
Male
Nerve Fibers, Myelinated pathology
Spiral Ganglion pathology
Syndrome
Bone Diseases complications
Cochlear Nerve pathology
Eye Diseases complications
Face abnormalities
Microcephaly complications
Nerve Degeneration pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1531-7129
- Volume :
- 22
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
- Publication Type :
- Academic Journal
- Accession number :
- 11300264
- Full Text :
- https://doi.org/10.1097/00129492-200103000-00009