1/370. E.N.T. manifestations of Von Recklinghausen's disease. Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade. ( info) |
2/370. Multisystem neuronal involvement and sicca complex: broadening the spectrum of complications. We report two patients with multisystem neuronal involvement associated with sicca complex. One had a lower motor neuron syndrome combined with a flaccid bladder and rectum. The second patient had unilateral hearing loss, sensory neuronopathy, Adie's pupils, upper motor neuron signs, and autopsy-proven anterior horn cell degeneration. Our cases lead us to propose that the spectrum of neuronal involvement occurring with sicca syndrome may be wider than is currently appreciated. ( info) |
| Autophonia, the hyperperception of one's own voice and breathing, is one of the consequences of rapid weight loss and is explained within the syndrome of the patulous eustachian tube. We report on a female adolescent, who presented to an otologist for autophonia and was finally diagnosed with anorexia nervosa. The occurrence and relevance of this symptom in eating-disorder patients is discussed. ( info) |
| Pertaining to non-organic hearing loss in children, three goals should be attained: detection of this disease, determination of true hearing levels and information about the possible cause. Recently, objective tests have been used principally for children with non-organic hearing loss; however, these lack the simplicity and convenience of traditional audiometry. A new method, which is referred to as suggestion audiometry, since it is suggested to the patient that hearing will be improved as a result of the test procedure, was developed for the purpose of simultaneously achieving the above-stated three goals. The subjects were 20 patients aged 8-16 years suspected of demonstrating non-organic hearing loss and whose apparent hearing loss had been identified by school hearing examinations. suggestion pure tone audiometry was useful for the detection of non-organic hearing loss and suggestion speech audiometry was valuable for the determination of true hearing levels. The subjects were classified into four groups according to the test results. We discuss causes of the disease based on the classification of the subjects obtained from this test procedure. ( info) |
5/370. Use of patient-specific estimates in patient evaluation and rehabilitation. For a number of years we have been using open-ended questionnaires in the assessment of hearing disability and handicap, tinnitus complaint behaviour together with shortcomings and benefits of various rehabilitative interventions. More recently we have applied this approach to positive experiences reported by adults who have developed a hearing impairment and to the use of silence or social withdrawal as a communication tactic. In addition, we have asked individuals to rate the magnitude of each of their listed disabilities, handicaps, shortcomings, etc., on a scale to provide a qualitative assessment of each of these elements important to the individual. Such a procedure can be repeated after the intervention to measure changes in such estimates. This approach can thus highlight for the therapist, those elements of the patients' problems which are being well or poorly addressed and hence help them to concentrate their effort on the latter. Results obtained using this technique are presented and discussed. ( info) |
6/370. Audiological tests for evaluation of central auditory disorders. Three audiological tests (Competing Sentences, Rapidly Alternating speech, Staggered Spondaic Words) currently being used to evaluate central auditory dysfunction are discussed. Audiological and neurological findings on three patients with central auditory lesions are presented, with special reference to their performance on these central auditory tests. Results suggest the tests are of value in identifying and/or corroborating central lesions, and in providing a more complete explanation of patient communicative difficulties. ( info) |
7/370. Central auditory dysfunction. The numerous tests applicable to the assessment of central deafness are briefly reviewed. It is likely that the more specific verbal and non-verbal tests, which assess more complex auditory function, will prove to be most useful in the assessment of these problems. We believe that the concept of a spectrum of clinical-anatomical types of central deafness is useful, namely, cortical, brainstem and more peripheral forms; a detailed study of an example of a predominantly brainstem type of central deafness is presented. An interdisciplinary approach which applies the methods of the audiologist, otolaryngologist, and neurologist to these patients is required to localize the site of the lesion, to detect and describe the deafness and to establish its etiology. ( info) |
8/370. Upper respiratory problems in the yellow nail syndrome. A case of the yellow nail syndrome is described. The characteristic nail changes were associated with pleural effusions, lymphoedema of the face and legs and upper respiratory symptoms. The finding of extremely hard ear wax has not been reported previously. A satisfactory response to combination diuretic therapy was seen. The case of recognition of the Syndrome is emphasized together with the danger of excessive investigation if the nails are not inspected. Possible mechanisms for the formation of extremely hard cerumen are discussed. ( info) |
9/370. Congenital malformation of the inner ear associated with recurrent meningitis. Congenital deformities of the labyrinth of the inner ear can be associated with meningitis and varying degrees of hearing loss or deafness. A recurrence of meningitis is due to the development of a fistulous communication between the subarachnoid space and the middle ear cavity, and can prove lethal. An illustrative case of a 4-year-old Japanese girl with bilateral severe hearing loss, recurrent meningitis and malformations of the inner ear and stapes footplate is presented. Removal of the stapes during tympanotomy provoked a gush of cerebrospinal fluid. The defect was repaired successfully, and there has been no further episodes of meningitis to date. ( info) |
10/370. A model for the assessment and management of children with multiple disabilities. Children with multiple disabilities present complex management problems, both for their families and for the professionals involved in their care. For any one child, the list of functional and medical problems that need to be addressed is frequently reflected in an even longer list of involved professionals, leading to conflicting advice and problems in co-ordination of care. A hierarchical model for assessment and management is proposed, which highlights the interdependency of apparently different areas of functioning. The model aims to assist both parents and professionals in determining priorities, to improve interdisciplinary working, and to underpin staff training. Illustrative case studies indicate the importance of resolving issues in areas such as visual functioning, positioning and nutrition before integrated functions such as communication skills can be addressed successfully. ( info) |