Fabry's disease: otoneurologic findings in twelve members of one family

Fabry's disease corresponds to an inherited disorder transmitted by an X-linked recessive gene. It generates a dysfunction of glycosphingolipid metabolism due to an enzymatic deficiency of alpha-galactosidase activity, resulting in glycosphingolipid deposits in all areas of the body. The clinical (heart, kidney, and central nervous system) manifestations are more severe in hemizygous boys than in heterozygous girls. They appear during childhood or adolescence: acroparesthesia, joint pain, angiokeratoma, corneal dystrophy, hypohydrosis or anhydrosis, and renal failure. The otoneurologic symptoms consist of hearing fluctuation, progressive unilateral or bilateral hearing loss, and episodes of vertigo or dizziness. Otoneurologic findings in 12 of 26 members of the same family are presented: the mother and 9 of her 12 children, as well as 2 of her 14 grandchildren: 4 healthy persons, 4 heterozygous female carriers, and 4 hemizygous male patients. Three of the male patients had fluctuation of hearing, sudden hearing loss, and episodes of vertigo and dizziness. The otoneurologic examinations showed a bilateral cochleovestibular deficit (n = 1), a right cochleovestibular deficit (n = 1), and a bilateral hearing loss combined with a right vestibular deficit (n = 1). Histopathologic evidence of glycosphingolipid accumulation in vascular endothelial and ganglion cells, as well as atrophy of the stria and spiral ligament, might explain the otoneurologic symptoms and findings.

Long-term results and complications following uvulopalatopharyngoplasty in 116 consecutive patients

A modified uvulopalatopharyngoplasty (UPPP) was carried out between January 1992 and December 2003 at the ENT Department of the Inselspital in Bern in 146 patients with habitual or complicated rhonchopathy. The operation consisted of a classical tonsillectomy or residual tonsil resection and additional shortening of the uvula. The natural mucosal fold between the uvula and the upper pole of the tonsils was carefully preserved. A wide opening to the rhinopharynx was created by asymmetric suturing of the glossopalantine and pharyngopalatine arches. A retrospective questionnaire with regard to rhonchopathy, phases of apnea, daytime drowsiness, obstruction of nasal breathing, long-term complications and patient satisfaction was used to evaluate the short-term and long-term effectiveness of the modified UPPP as well as the incidence of adverse side effects. Complete postoperative courses were evaluated in 116 patients. Surgical complications were restricted to one case with postoperative hemorrhage. A velum insufficiency or postoperative rhinopharyngeal stenosis did not occur. Eighty-three patients (72%) confirmed a persistent suppression or substantial improvement of the rhonchopathy. Disappearance or decrease of sleep apnea was confirmed in 12 (63%) out of 19 postoperative polysomnographic follow-up investigations. Long-term complications occurred in a total of 27 (23%) of 116 patients. They were confined to minor problems such as dryness of the mouth (n = 12), slight difficulty in swallowing (n = 7), discrete speech disturbances (n = 1), and slight pharyngeal dysesthesias (n = 7) with feeling of a lump in the throat and compulsive clearing of the throat. Eighty-five patients (73%) reported that they were satisfied with the postoperative result even several years after the operation. Looking back, 31 patients (27%) would no longer have the operation performed. The inadequate result of the rhonchopathy was specified as the reason by 21 patients. Ten patients had unpleasant memories of the operation because of intensive postoperative pain. Snoring and apneic phases are suppressed or improved by non-traumatic UPPP in the majority of patients. This effect persisted even years after the operation.

Anatomical study of the human middle ear for the design of implantable hearing aids

OBJECTIVE: To generate anatomical data on the human middle ear and adjacent structures to serve as a base for the development and optimization of new implantable hearing aid transducers. Implantable middle ear hearing aid transducers, i.e. the equivalent to the loudspeaker in conventional hearing aids, should ideally fit into the majority of adult middle ears and should utilize the limited space optimally to achieve sufficiently high maximal output levels. For several designs, more anatomical data are needed. METHODS: Twenty temporal bones of 10 formalin-fixed adult human heads were scanned by a computed tomography system (CT) using a slide thickness of 0.63 mm. Twelve landmarks were defined and 24 different distances were calculated for each temporal bone. RESULTS: A statistical description of 24 distances in the adult human middle ear which may limit or influence the design of middle ear transducers is presented. Significant inter-individual differences but no significant differences for gender, side, age or degree of pneumatization of the mastoid were found. Distances, which were not analyzed for the first time in this study, were found to be in good agreement with the results of earlier studies. CONCLUSION: A data set describing the adult human middle ear anatomy quantitatively from the point of view of designers of new implantable hearing aid transducers has been generated. In principle, the method employed in this study using standard CT scans could also be used preoperatively to rule out exclusion criteria.