There are numerous conditions, mostly of childhood and including developmental abnormalities, in which congenital deafness accompanies disease of the peripheral or central nervous system. Those associated with mitochondrial encephalopathies have already been mentioned. The other main types with autosomal inheritance include the following: 1. Hereditary hearing loss with epilepsy The seizure disorder is mainly one of myoclonus. In one dominantly inherited form, photomyoclonus is associated with mental deterioration, hearing loss, and nephropathy (Hermann disease). In May-White disease, also inherited as an autosomal dominant trait, myoclonus and ataxia accompany hearing loss. Congenital deafness and mild chronic epilepsy of recessive type have also been observed (Latham-Monro disease).
2. Hereditary hearing loss and ataxia Here Konigsmark was able to delineate 5 syndromes, the first 2 of which show a dominant pattern of heredity, the last 3 a recessive pattern: piebaldism, ataxia, and neural hearing loss (Telfer-Sugar-Jaeger syndrome); hearing loss, hyperuricemia, and ataxia (Rosenberg-Bergstrom syndrome); ataxia and progressive hearing loss (Lichtenstein-Knorr syndrome); ataxia, hypogonadism, mental deficiency, and hearing loss (Richards-Rundle syndrome); ataxia, mental retardation, hearing loss, and pigmentary changes in the skin (Jeune-Tommasi syndrome).
3. Hereditary hearing loss and other neurologic syndromes These include dominantly inherited sensory radicular neuropathy (Denny-Brown); progressive polyneuropathy, kyphoscoliosis, skin atrophy, eye defects (myopia, cataracts, atypical retinitis pigmentosa), bone cysts, and osteoporosis (Flynn-Aird syndrome); chronic polyneuropathy and nephritis (Lemieux-Neemeh syndrome); congenital pain asymbolia and auditory imperception (Osuntokun syndrome); and bulbopontine paralysis (facial weakness, dysarthria, dysphagia, and atrophy of the tongue with fasciculations) with progressive neural hearing loss. The onset of the last syndrome occurs at 10 to 35 years of age; the pattern of inheritance is autosomal recessive. The disease progresses to death. It resembles the progressive hereditary bulbar paralysis of Fazio-Londe except for the progressive deafness and loss of vestibular responses. Regrettably, in most of these syndromes, there are no data regarding labyrinthine function.
The details of these many syndromes are contained in Konigsmark’s review, of course, in the era before the genetic underpinnings of these diseases were accessible. The main syndromes are listed in Table 14-1 and are summarized above so as to increase awareness of the large number of hereditary-degenerative neurologic diseases for which the clue is provided by the detection of impaired hearing and labyrinthine functions.
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