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Titolo:
Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration
Autore:
Fish, JH; Scholtz, AW; Hussl, B; Kreczy, A; Schrott-Fischer, A;
Indirizzi:
Innsbruck Univ, Dept Otolaryngol, A-6020 Innsbruck, Austria Innsbruck Univ Innsbruck Austria A-6020 yngol, A-6020 Innsbruck, Austria Innsbruck Univ, Dept Pathol Anat, A-6020 Innsbruck, Austria Innsbruck Univ Innsbruck Austria A-6020 Anat, A-6020 Innsbruck, Austria
Titolo Testata:
OTOLOGY & NEUROTOLOGY
fascicolo: 2, volume: 22, anno: 2001,
pagine: 170 - 177
SICI:
1531-7129(200103)22:2<170:CSAAHE>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEUROPATHOLOGICAL FINDINGS; QUANTITATIVE-EVALUATION; AUDITORY-NERVE; COFS SYNDROME; PATHOLOGY; PATTERNS; FIBERS; CELLS;
Keywords:
human; neuron; ganglion cell; primary degeneration; COFS syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Schrott-Fischer, A Innsbruck Univ, Dept Otolaryngol, Anichstr 35, A-6020 Innsbruck, Austria Innsbruck Univ Anichstr 35 Innsbruck Austria A-6020 ia
Citazione:
J.H. Fish et al., "Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration", OTOL NEURO, 22(2), 2001, pp. 170-177

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. Patient and Methods: The authors report inner ear histopathological 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 ageof 2 years. 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. 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 16:41:11