1/99. Successful cochlear implantation in a patient with melas syndrome.OBJECTIVE: To describe methods of assessing cochlear implant candidacy in patients with potentially significant peripheral and central nervous system (CNS) degeneration. STUDY DESIGN: A patient with a degenerative CNS disease (melas syndrome) undergoing evaluation for cochlear implantation is described. SETTING: This study took place at a tertiary care center. PATIENT: A patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) who had cortical blindness and profound sensorineural hearing loss was evaluated and rehabilitated with cochlear implantation. INTERVENTIONS: Pure-tone audiogram, behavioral responses to promontory stimulation electrical auditory brainstem response, and electrically evoked middle-latency responses (MLRs) were used to assess eighth nerve, auditory brainstem, and cortical auditory pathways. cochlear implantation with Cochlear Corporation mini 22 implant was performed. RESULTS: Repeatable electrically evoked MLRs and behavioral responses to promontory stimulation documented the presence of auditory cortical responses. Successful implantation resulted in open set speech recognition and communication using the auditory/oral mode. CONCLUSION: This report describes successful implantation in a patient with melas syndrome and demonstrates the ability to preoperatively confirm the integrity of brainstem and cortical auditory pathways despite significant CNS degeneration.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
2/99. diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome.The present paper reports the case history of a 50-year-old man born with Usher syndrome, who developed a psychotic illness later in life, to illustrate the specific diagnostic problems, and the value of direct observation and a detailed assessment of communication. The subject had had a significant hearing impairment since birth, problems with balance and developed retinitis pigmentosa, leaving him with progressively limited vision in adult life. A pattern of bizarre and aggressive behaviour, and a disintegration in his ability to communicate using signs developed over 3 months. An initial diagnosis of depression was made, but it later became clearer that the subject had developed a psychotic illness. This condition responded well to a combination of antidepressant and antipsychotic medication. The possible association between Usher syndrome and psychotic illness is also discussed.- - - - - - - - - - ranking = 47.263945202299keywords = retinitis pigmentosa, pigmentosa, retinitis (Clic here for more details about this article) |
3/99. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.We report the first de novo mutation in the DDP gene in a Dutch 11-year-old boy with deafness and dystonia. Previously reported mutations in the DDP gene have all been frameshifts/nonsense mutations or deletion of the entire gene as part of a larger deletion encompassing the BTK gene. The clinical presentation was uniformly characterised by sensorineural hearing loss, dystonia, mental deterioration, paranoid psychotic features, and optic atrophy, indicating progressive neurodegeneration. Our report illustrates that de novo mutations occur and that a missense mutation, C66W, may cause an equally severe clinical picture. The diagnosis of sensorineural hearing impairment associated with neurologic and visual disability in a male, therefore, should encourage the search for mutations in the DDP gene, even in sporadic cases. The association of deafness-dystonia syndrome with a missense mutation provides valuable information for in vitro investigations of the functional properties of the deafness-dystonia peptide which was recently shown to be the human homolog of a yeast protein, Tim8p, belonging to a family of small Tim proteins involved in intermembrane protein transport in mitochondria.- - - - - - - - - - ranking = 0.5keywords = degeneration (Clic here for more details about this article) |
4/99. ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.- - - - - - - - - - ranking = 0.83431812408633keywords = dystrophy (Clic here for more details about this article) |
5/99. Histopathologic features of the temporal bone in usher syndrome type I.Temporal bones of 2 patients with Usher syndrome type I were examined using light microscopy. In both patients, findings from histopathologic examination of the cochlea were characterized by degeneration of the organ of corti, which was most marked in the basal turn, atrophy of the stria vascularis, and a decrease in the number of spiral ganglion cells. The cochlear nerve appeared to be diminished. The sensory epithelium of the saccular and utricular maculae of patient 1 was normal for age. The left temporal bone of patient 2, classified as Usher syndrome genetic subtype USH1D or USH1F, demonstrated the typical signs of severe cochleosaccular degeneration. Present cases and cases from the literature were reviewed in search of an explanation for the above-described differences in histologic findings.- - - - - - - - - - ranking = 1keywords = degeneration (Clic here for more details about this article) |
6/99. alstrom syndrome with hepatic dysfunction: report of one case.alstrom syndrome is a rare autosomal recessive disorder associated with early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. We report a 10-year-old boy with alstrom syndrome presenting with general malaise and abnormal liver function for 1 year. In addition to the above mentioned features, he also had hyperglycemia and hyperinsulinemia. The mechanism responsible for the persistent elevation of liver enzymes could not be identified. To the best of our knowledge, this is the first-reported case of alstrom syndrome with hepatic dysfunction in taiwan.- - - - - - - - - - ranking = 0.57388033463371keywords = retinopathy (Clic here for more details about this article) |
7/99. Word deafness after resection of a pineal body tumor in the presence of normal wave latencies of the auditory brain stem response.We studied the case of a 48-year-old woman who had resection of a pineal body tumor in terms of postoperative audiological function. Postoperative magnetic resonance imaging disclosed partial inferior colliculi destruction and medial geniculate body degeneration. A pure tone audiogram revealed only moderate sensorineural hearing loss, but her speech perception was totally impaired. The binaural sound localization function was also impaired. The auditory brain stem response (ABR) showed waves I, III, and V to have normal latencies. The amplitude of wave III was larger than that of wave V. These results support the view that the waves of the ABR are elicited from multiple sources in the auditory brain stem nuclei and tracts. This case suggests a substantial role for the inferior colliculus and medial geniculate body in the processing of speech perception and sound localization.- - - - - - - - - - ranking = 0.5keywords = degeneration (Clic here for more details about this article) |
8/99. microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.We describe the cases of two brothers with microcephaly, primary cutis verticis gyrata of the scalp, prominent supraorbital ridges, large nose, hypertelorism, exotropia, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, kyphoscoliosis, and mental retardation. A review of the literature focusing on the major clinical findings suggests that our cases may represent a hitherto unreported new syndrome.- - - - - - - - - - ranking = 236.3197260115keywords = retinitis pigmentosa, pigmentosa, retinitis (Clic here for more details about this article) |
9/99. Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.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 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. 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.- - - - - - - - - - ranking = 3.5keywords = degeneration (Clic here for more details about this article) |
10/99. Renal diagnosis without renal biopsy. nephritis and sensorineural deafness.Two examples of hereditary nephropathy within the context of clinical syndromes are described. Emphasis is put on the ability to make a renal diagnosis without renal biopsy and the benefits of screening relatives once a diagnosis is achieved. A variant of Alport's syndrome with associated macrothrombocytic thrombocytopenia, known as Epstein's syndrome, is reported. In addition siblings with Alstrom's syndrome characterized by pigmentary retinal degeneration (causing blindness in early childhood), progressive sensorineural hearing loss, and progressive renal failure are reported. Both cases had previously presented for non-renal pathology in advance of the onset of symptomatic renal failure and may have benefited from appropriate screening.- - - - - - - - - - ranking = 0.5keywords = degeneration (Clic here for more details about this article) |
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