1/54. Labyrinthine involvement in Langerhans' cell histiocytosis.BACKGROUND: Langerhans' cell histiocytosis, a rare condition caused by the proliferation of abnormal Langerhans' cells ('LCH cells') and an accompanying granulomatous infiltrate, can affect several organs including the ear. External and middle ear involvement are common with a reported incidence as high as 61%. The bony labyrinth is resistant to erosion by the granulation tissue, thereby protecting the cochlea and vestibular structures. Probably for this reason, involvement of the inner ear is rare, with few case reports in the literature. patients: We report two girls, one with bilateral and the other with unilateral mastoid involvement, in whom there was invasion of the labyrinth. The first girl had 'single system' LCH affecting only bone and developed an acute hearing loss due to invasion of the cochlea, while the second had both bone and skin involvement and labyrinthine involvement was diagnosed on imaging prior to the onset of labyrinthine symptoms. CONCLUSION: Inner ear involvement can lead to permanent deafness, which may be prevented by early institution of treatment. Threatened inner ear involvement requires urgent systemic medical therapy with steroids, possibly combined with chemotherapy.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/54. cochlear implantation of a deaf blind patient with mitochondrial cytopathy.Genetic defects of the mitochondrial dna often cause sensorineural hearing impairment, accompaniment by disorders of organs within the body. This case report describes cochlear implantation of a 33-year-old deaf blind female with mitochondrial cytopathy. The outcome was very successful, and vastly improved quality of life for this patient. Many cases of mitochondrial cytopathy cause progressive deafness; it is, therefore, likely that other patients with this unusual disorder will present for cochlear implant assessment.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/54. Congenital long-QT syndrome: a case report illustrating diagnostic pitfalls.This article reviews the clinical course of a 10-year-old child with a lifelong history of seizures and congenital deafness who presented after an episode of sudden cardiac arrest secondary to long-QT syndrome-induced torsade de pointes. Jervell-Lange-Nielsen syndrome is a rare cardioauditory syndrome in which affected subjects are susceptible to recurrent syncope and sudden death from ventricular dysrhythmias, usually before the second decade of life. Careful evaluation of suspected subjects is important because of the variability of the QTc interval. Recent research has identified specific gene sequences that encode ion channels responsible for both prolonged QTc interval and deafness. Treatment of symptomatic cardiac disease with beta-blockers in combination with pacemakers and automated internal cardioverter defibrillators can markedly improve quality of life and suppress ventricular dysrhythmias even in the most severely affected subjects. The recent identification of gene sequences identifying some congenital long-QT syndromes may improve screening methods for affected patients and lead to potential therapeutic intervention.- - - - - - - - - - ranking = 3keywords = life (Clic here for more details about this article) |
4/54. Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature.In 1965, Bjornstad described 8 patients with pili torti, of whom five also suffered from hearing loss. The combination of these two findings was later coined Bjornstad's syndrome. Typically, these patients develop hair loss in the first two years of life, while the hearing deficit may become evident in the first three to four years of life. However, considerable differences regarding age of onset and clinical severity have been reported, a pronounced hair shaft abnormality is often associated with severe hearing deficits. In a recent study of a Mexican family with pili torti and deafness, the inheritance was determined to be autosomal recessive, and mapped to the gene locus 2q34-q36. hypogonadism and mental retardation are associated findings that have been described in patients with Bjornstad syndrome. In this re-investigation of Bjornstad's original patients, two additional patients with pili torti and hearing loss are described, and a review of the published cases of Bjornstad's syndrome is given, as well as a short overview of syndromes and conditions with twisted hairs.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
5/54. adult T-cell leukemia/lymphoma with initial deafness.In July 1995, a 43-year-old Japanese man presented with deafness in the right ear. On hospital admission, he had deafness in both ears and right facial palsy. Variously sized lymphoid cells with convoluted nuclei were observed in the cerebrospinal fluid. Surface marker analysis revealed monoclonality of T lymphocytes in the spinal fluid. Similar abnormal cells were observed in peripheral blood and bone marrow. biopsy specimens of the stomach and prostate showed tight proliferation of large lymphoid cells in the interstitium and epithelium. Antibody against human T-lymphotrophic virus type 1 (HTLV-1) was present. The diagnosis of non-Hodgkin's lymphoma, diffuse type, was made. Seven months later, the patient died of sepsis. autopsy revealed multiple lymphadenopathy in the abdomen and the infiltration of atypical lymphocytes to the pancreas, kidneys, and other organs. A monoclonal band of HTLV-1 provirus was detected by Southern blot analysis. To our knowledge, this is the first report of adult T-cell leukemia/lymphoma with auditory nerve abnormalities as the initial symptom.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/54. Assessment of ventricular repolarization in deaf-mute children.The long qt syndrome is a congenital disease with frequent familial transmission, characterized primarily by prolongation of the QT interval and by the occurrence of life-threatening arrhythmias. The syndrome may be familial, with or without congenital deafness, or it may be idiopathic. We attempted to assess ventricular repolarization and to identify patients with the Jervell and Lange-Nielsen syndrome among 132 deaf-mute school children. Five deaf-mute subjects had Jervell and Lange-Nielsen syndrome. The deaf-mute subjects were divided into two subgroups according to the length of their QT intervals: group 1 included 5 cases with the long QT interval (>440 msec), and group 2 included 127 subjects with the normal QT interval (< or =440 msec). Group 3 was composed of 96 control subjects. The mean QT, QTc, JT, and JTc intervals (418 /-70, 500 /-38, 302 /- 65, and 389 /-36 msec, respectively) in group 1 were significantly longer than those of group 2 (344 /-23, 408 /-22, 249 /-34, and 291 /-28 msec, respectively) and group 3 (325 /-11, 383 /-26, 228 /-36, and 269 /-46 msec, respectively). The dispersion (d) values (QT-d, QTc-d, JT-d, and JTc-d; 63 /-10, 73 /-8, 60 /-8, and 62 /-11 msec, respectively) of group 1 were significantly longer than those of group 2 (49 /-16, 43 /-11, 48 /-21, and 45 /-18 msec, respectively) and group 3 (33 /-13, 33 /-14, 28 /-16, and 27 /-14 msec, respectively) at similar mean RR intervals. Also, the mean QT, QTc, JT, and JTc intervals and the dispersion values (QT-d, QTc-d, JT-d, and JTc-d) in group 2 were significantly longer than those of group 3 at similar mean RR intervals. Consequently, in this study, we determined that the deaf-mute children who did not meet the criteria for Jervell and Lange-Nielsen syndrome still had evidence of subtle derepolarization abnormalities evidenced by intermediate prolongation of QTc, JTc, and the corresponding measures of dispersion, and we believe an electrocardiogram examination of deaf-mute subjects will reveal this potentially life-threatening syndrome.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
7/54. Twenty-year report of the first auditory brain stem nucleus implant.We present the 20-year case report of an auditory implant placed on the dorsal cochlear nucleus with long-term electrical stimulation in a patient with neurofibromatosis 2. The patient has continued to use her implant daily for 20 years, and it has greatly enhanced her quality of life. There have been no adverse sequelae.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/54. Auditory brainstem and cochlear implants: functional results obtained after one year of rehabilitation.Very little information has been published on the clinical outcome of auditory brainstem implants (ABI). The present paper evaluates results obtained in a patient affected by a bilateral acoustic neuroma in type II neurofibromatosis who received an implant during removal of the residual tumor. One year later surgical revision of the ABI was necessary because no auditory sensation was obtained after ABI activation. Twelve months after the surgical revision, 12 electrodes out of 15 evoked auditory sensation. The results of rehabilitation were compared with those obtained in a group of eight postlingually deaf patients with cochlear implants (CI). Twelve months postoperatively the CI patients identified 97.7 /- 5.1% of bisyllabic words in a closed set while the ABI patient identified 86%. CI patients recognized 87.1 /- 11.3% of sentences and 81.3 /- 14.8% of words with contextual cues while the ABI patient recognized 75% and 65% respectively. speech recognition improved more slowly in the ABI patient than in the CI patients and his scores for open-set words and sentences without lip reading and contextual cues were poorer. Although the results obtained in the ABI patient were not as good as those obtained in the CI patients, the ABI patient said his quality of life was improved.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/54. tetralogy of fallot associated with chromosome 22q11.2 deletion in adolescents and young adults.PURPOSE: To clarify the clinical profiles of adolescents and young adults with tetralogy and 22q11.2 deletion, which has recently been identified as a cause of tetralogy of fallot in about 15% of patients. methods: Thirty-four patients with 22q11.2 deletion and tetralogy of fallot, with or without pulmonary atresia, including 15 males and 19 females, with their age ranging from 16 to 35 years (mean = 25) were studied. Main outcome measurements include chromosome deletion identified by fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes, medical states assessed with new york heart association classification, social activity assessed with Warnes index, IQ assessed by Wechsler test. RESULTS: Eighteen of 20 patients with tetralogy and pulmonary stenosis had cardiac repair, and their cardiac conditions were good except one. Of 14 patients with tetralogy with pulmonary atresia, 7 had Rastelli type cardiac repair and were doing well, although 4 of them needed re-operation for conduit stenosis. No cardiac repair was done in the other 7 patients with tetralogy, pulmonary atresia and major collateral arteries because their peripheral pulmonary arteries were too small. In 28 of the 34 patients (82%), overall social activity was limited because of extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia. The IQ in 17 patients was 59 /- 13 (mean /- SD): range 41 to 79. In two patients, repeated IQ study showed a decrease. Four patients developed schizophrenia. CONCLUSION: Tetralogy with 22q11 deletion can be repaired surgically except in those patients with pulmonary atresia, major collateral arteries, and small peripheral pulmonary arteries. However, most of the adult patients show an inability to function in social life in contrast to most patients with tetralogy but without the deletion, who have a normal social life. Extracardiac diseases, including deafness, club feet, mental retardation, and schizophrenia were major handicaps limiting full social activities in postoperative adolescents and young adults with 22q11.2 deletion and tetralogy.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
10/54. Is cochlear implantation possible after acoustic tumor removal?HYPOTHESIS: This study aimed to assess the possibility of hearing restoration after acoustic tumor removal. BACKGROUND: Hearing restoration surgery may be indicated after surgery of bilateral acoustic tumors or surgery of acoustic tumor in the only hearing ear. The choice is between cochlear implantation and brainstem implantation. methods: From the temporal bone collection at the House Ear Institute, los angeles, the author histologically examined eight temporal bones from seven patients who had undergone acoustic tumor removal during their lifetime. Special emphasis was put on examining the patency of the cochlear turns and on survival of the spiral ganglion cells and cochlear nerve. RESULTS: This study showed that after translabyrinthine acoustic tumor removal, there is progressive osteoneogenesis of the cochlea associated with almost complete degeneration of the spiral ganglion cells and cochlear nerve. Similar findings were noticed after middle fossa removal of acoustic tumor with unsuccessful hearing preservation. CONCLUSIONS: The histologic changes described in the cochlea and cochlear nerve represent the effects of ischemia resulting from inadvertent cutting of the blood supply during acoustic tumor removal. It is possible to do cochlear implantation after acoustic tumor removal provided that the result of promontory electrical stimulation test is positive (the cochlear nerve is intact) and that implantation is done at the time of acoustic tumor removal or shortly thereafter, before cochlear ossification is complete.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
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