Familial Progressive Sensorineural Deafness

Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome

“…Differential diagnoses of the Harboyan syndrome are Hurler disease, congenital glaucoma, Cogan syndrome, and syphilitic interstitial keratitis. 6 These disorders were ruled out by additional exams.…”

“…Paparella et al in 1969 described familial progressive sensorineural hearing loss associated with histopathologic findings compatible with marked degeneration of the stria vascularis and reduced ganglion cells mainly in the basal cochlear turn. 6 7 However, the audiologic evaluation of these patients usually reveals no recruitment and discreet presence of positive tone decay. These findings are consistent with a greater chance of lesions in the organ of Corti and the auditory nerve (peripheral lesion).…”

Histopathology of Nonsyndromic Autosomal Dominant Midfrequency Sensorineural Hearing Loss

“…Konigsmark et al (4) cited a report by Paparella et al (3) as describing the otopathology in genetically determined midfrequency SNHL. However, our review of the article by Paparella et al (3) suggests otherwise. In the latter report, Paparella et al described the otopathology in a 52-year-old man who had a bilateral, severe, flat, 60- to 70-dB SNHL.…”

Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)

“…With increasing age, the typical audiogram shape will probably be lost. Some other authors have previously given descriptions of mid‐frequency SNHI 9,10,12–18 . Most of these descriptions are rather non specific and only include a saucer (U)‐shaped appearance of the audiogram or involvement of the mid frequencies without mentioning the thresholds at the other frequencies.…”