Cochleo-Saccular Degeneration in One of Three Sisters with Hereditary Deafness, Absent Gastric Motility, Small Bowel Diverticulitis and Progressive Sensory Neuropathy
Abstract:This is a report of cochleo-saccular degeneration found in temporal bones from a patient who had suffered from slowly progressive and total sensorineural deafness which had an inherited origin. At age 8, this patient began to complain of hearing loss, and by age 10 she was totally deaf. The patient was 1 of 3 female siblings who have suffered from an exactly identical progressive disease: deafness, absent gastric motility, small bowel diverticulitis and ulceration, and sensory neuropathy. The temporal bone pat… Show more
“…Chromosomal studies had confirmed trisomy 21. The right organ of Corti was 28.7 mm long, with lateral semi¬ circular canal measurements as follows: A, 6.99 mm; B, 1.73 mm; and C, 1.97 mm. The left cochlea was 28.2 mm long, and the lateral canal measurements were as fol¬ lows: A, 7.52 mm; B, 2.00 mm; and C, 1.85 mm.…”
\s=b\Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.
“…Chromosomal studies had confirmed trisomy 21. The right organ of Corti was 28.7 mm long, with lateral semi¬ circular canal measurements as follows: A, 6.99 mm; B, 1.73 mm; and C, 1.97 mm. The left cochlea was 28.2 mm long, and the lateral canal measurements were as fol¬ lows: A, 7.52 mm; B, 2.00 mm; and C, 1.85 mm.…”
\s=b\Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.
“…1). Studies related to cochleosaccular degeneration discussed its influence in a variety of animal models (mouse [8],cats [9], dogs [10, 11], mink [12]) and human [13]. Fig.…”
BackgroundWaardenburg syndrome (WS) is the consequence of an inherited autosomal dominant mutation which causes the early degeneration of intermediate cells of cochlear stria vascularis (SV) and profound hearing loss. Patients with WS may also experience primary vestibular symptoms. Most of the current WS studies did not discuss the relationship between WS and abnormal vestibular function. Our study found that a spontaneous mutant pig showed profound hearing loss and depigmentation. MITF-M, a common gene mutation causes type WS which affect the development of the intermediate cell of SV, was then identified for animal modeling.ResultsIn this study, the degeneration of vestibular hair cells was found in pigs with MITF-M. The morphology of hair cells in vestibular organs of pigs was examined using electron microscopy from embryonic day E70 to postnatal two weeks. Significant hair cell loss in the mutant saccule was found in this study through E95 to P14. Conversely, there was no hair cell loss in either utricle or semi-circular canals.ConclusionsOur study suggested that MITF-M gene mutation only affects hair cells of the saccule, but has no effect on other vestibular organs. The study also indicated that the survival of cochlear and saccular hair cells was dependent on the potassium release from the cochlear SV, but hair cells of the utricle and semi-circular canals were independent on SV.
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