1/8. Inner ear malformations and hearing loss in linear nevus sebaceous syndrome.OBJECTIVE: Linear nevus sebaceous syndrome (LNSS) is a rare disorder comprising of nevus sebaceous, seizures, and mental retardation. While extensive literature describe the dermatologic, neurologic, as well as ophthalmologic manifestations of this LNSS, otologic problems have not been previously described. The objective of this report is to describe the otologic manifestation of a patient with LNSS. methods: A child with LNSS was referred to the Otologic clinic for evaluation of hearing loss. Pertinent findings on history, physical findings, audiometric testing, and imaging studies are discussed. RESULTS: Audiometric testing showed bilateral conductive hearing loss. Computerized tomography of the temporal bone demonstrated widened internal auditory canals and dysplastic lateral semicircular canals. CONCLUSION: LNSS can be associated with hearing impairment and inner ear malformations. The evaluation of a child with LNSS should include otologic and audiologic testing.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/8. Characterization of a stapes ankylosis family with a NOG mutation.OBJECTIVE: To characterize the otologic phenotype in a family with autosomal dominant stapes ankylosis, hyperopia, and skeletal abnormalities caused by a mutation in the noggin gene (NOG). STUDY DESIGN: Case series. SETTING: Academic tertiary care center. patients: Eight affected and 3 unaffected family members. MAIN OUTCOME MEASURES: history, physical and radiologic examination, and surgical outcomes. RESULTS: Although affected members were initially presumed to have typical nonsyndromic otosclerosis, the clinical data were most consistent with an autosomal dominant congenital stapes ankylosis syndrome. Eight of eight affected family members had bilateral low-frequency conductive hearing loss. Six of eight underwent fenestration procedures and/or stapedectomies. All members with initial postoperative closure of the air-bone gap returned to their baseline conductive loss within 2 years. Two affected family members had documented maximal conductive hearing loss by age 4, and two members without previous otologic surgery have not experienced sensorineural hearing loss. High-resolution temporal bone computed tomography showed stapes ankylosis and indistinction of the incudomalleal junction bilaterally and bony regrowth over the stapedotomy for those with stapedectomies. Detailed physical and radiologic examination identified multiple other skeletal abnormalities. CONCLUSIONS: Although this phenotype may present as classic otosclerosis to the otolaryngologist, detailed investigation revealed a congenital stapes ankylosis syndrome. Because is essential in regulating normal bone development and maturation, mutations in this gene may be associated with excessive bony overgrowth and refixation of the stapes footplate after initial successful surgery. patients with hereditary conductive hearing loss should be assessed to rule out subtle features of a skeletal syndrome.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
3/8. Angiofibrolipoma of the ear canal.OBJECTIVES/HYPOTHESIS: Described is the first reported case of an angiofibrolipoma of the ear canal in a patient who presented with right-sided conductive hearing loss and a medial canal stenosis. STUDY DESIGN: Case report. RESULTS/CONCLUSION: This variant of lipoma contains mature adipocytes, blood vessels, and dense collagenous tissue. The physical examination can be misleading, and the diagnosis requires histopathological examination. The patient was treated with complete surgical excision, tympanoplasty, canalplasty, and skin grafting to the external auditory canal. His pure-tone average improved from 37 to 11 dB, and his air-bone gap was closed completely.The lipoma has not recurred in the 6-month period following surgery.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/8. A child with noonan syndrome.The speech, language, and hearing characteristics of a child with noonan syndrome are described in this report. The physical characteristics of this disorder are presented. Also included is a description of a pragmatic language analysis completed to provide a description of social-linguistic communication and a basis for treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/8. klippel-feil syndrome with conductive deafness and histological findings of removed stapes.The klippel-feil syndrome is usually associated with sensorineural hearing impairment, but rarely is it associated with conductive or mixed deafness. A 22-year-old female presented with fusion of the cervical vertebrae, torticollis, scoliosis, pterygium colli, the Sprengel deformity with an omovertebral bone, concavity of the thorax and conductive hearing impairment of the right ear. Tympanotomy disclosed an atrophic long process of incus and a fixation of the stapes footplate, and stapedectomy was performed with immediate postoperative improvement of hearing. However, she developed a sudden hearing loss with dizziness soon after she had physical exercise on the 15th postoperative day, and revision surgery revealed a perilymph fistula of the oval window. Histological investigations of the removed stapes showed no specific osseous changes but hyperostosis of the posterior edge of the footplate. The literature is reviewed and the etiology of the conductive deafness and the perilymph fistula is discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/8. Audiologic and otolaryngologic findings in progeria: case report.progeria is a rare syndrome, with an estimated incidence of 1 per 250,000 births. Although children with progeria have the appearance of premature aging or senility, the term is misleading because reported cases of progeria have not manifested most physical or biochemical aspects of old age. Many children with progeria appear normal at birth and then progressively, and rather rapidly, develop the characteristic features during early childhood. Although first described in the 1880s, only approximately 100 cases of progeria are reported in the international literature. The single case study of hearing in progeria, which appeared in 1965, is limited to pure-tone and speech audiometry findings. We report the results of otolaryngologic examination and pure-tone, speech, immittance, and auditory brainstem response (ABR) audiometry for a 5-year-old female with progeria. The patient had a mild-to-moderate, bilateral, conductive hearing loss. Immittance measurements were consistent with fixation of the ossicular chain and this was confirmed surgically. Mildly prolonged ABR wave I-V latencies suggest possible auditory central nervous system involvement.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/8. Vestibular dysfunction in a child with embryonic exposure to accutane.Children with a history of embryonic exposure to Accutane (isotretinoin) are at great risk for major physical malformations, brain malformations, and decreased intelligence. A case is presented of a 4-year 7-month-old black male with a history of embryonic exposure to Accutane who was born with embryopathy that includes bilateral major ear deformities. The child has a significant bilateral conductive hearing loss, and, in addition, a left sided sensorineural loss. Vestibular function testing revealed evidence of peripheral and central vestibular dysfunction. A course of diphenhydramine hydrochloride and Donnatal (phenobarbital, hyoscyamine sulfate, atropine sulfate, and scopolamine hydrobromide) significantly alleviated the symptoms of vestibular dysfunction. Otologic management of these children should include clinical documentation of the external deformities, evaluation of cochlear function, and early auditory habilitation. Vestibular function should also be evaluated in all children with a history of embryonic exposure to isotretinoin.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/8. Unilateral conductive hearing loss secondary to a high jugular bulb in a pediatric patient.A high jugular bulb is not an uncommon otologic anomaly. It may be noted as an incidental finding on physical exam, middle ear surgery, or computed tomography of the temporal bones. Frequently the patient is asymptomatic, but a high jugular bulb can occasionally cause tinnitus or conductive hearing loss. The case of a seven-year-old black male with unilateral conductive hearing loss secondary to a high jugular bulb is presented. The diagnosis, differential diagnosis, and management of a conductive hearing loss associated with a high jugular bulb are discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |