Waardenburg syndrome--penetrance of major signs.

We have estimated that 83% of individuals carrying the gene for Waardenburg syndrome type I show penetrance of the gene as measured by dystopia canthorum. This is lower than previous estimates, which failed to consider the frequency of equivocal dystopia in the general population. The addition of three other major signs (hearing loss, white forelock, and premature graying of the hair or vitiligo) does not substantially increase the discrimination of gene carriers (85% versus 83%). We estimate that about 75% of the first-degree relatives of probands can be assigned as normal or a gene carrier on the basis of the four major signs.

Bilateral cholesterol granuloma of the skull base: case report and review of the literature.

A unique case of bilateral cholesterol granuloma of the skull base and its treatment is presented. Cholesteatoma, a pathological entity often confused with cholesterol granuloma, is differentiated from cholesterol granuloma. Cholesterol granuloma is not rare. This tumor seems to derive from an inflammatory process at the skull base that results in bony erosion surrounding a cyst wall of inflammatory tissue. Neurological abnormalities reflect the location of the tumor in relation to the brain stem. Radiographically, the cyst wall enhances with the administration of i.v. contrast agent, and the center of the lesion is isodense with brain on computed tomography, unlike cholesteatoma. Magnetic resonance imaging characteristics are currently being defined. At operation, cholesterol granuloma consists primarily of a viscous fluid within a capsule of inflammatory tissue. Treatment requires establishing a pathway for drainage of the granuloma. The advantages of transsphenoidal, transclival drainage of such lesions are outlined.

Facial nerve monitoring in surgery for congenital auricular atresia.

Surgery for congenital auricular atresia places the facial nerve at risk because of its potential aberrancy; iatrogenic facial paralysis is a well-known potential risk. Five cases of congenital auricular atresia are presented. All patients had intraoperative monitoring of the facial nerve. The facial nerve was found to be abnormally displaced, usually due to hypoplasia of the tympanic ring. Preoperative and postoperative facial nerve function was unchanged by surgery. Facial nerve monitoring is an important adjunct in congenital ear surgery because it allows for early and precise identification of the nerve in the absence of normal surgical landmarks and provides for continuous monitoring of the nerve.

Early eyelid rehabilitation in facial nerve paralysis.

Upper-lid gold-weight insertions and lower-lid-shortening procedures are standard surgical techniques used to restore eyelid function and protect the cornea in patients with facial nerve paralysis. Different opinions exist in the literature regarding the correct timing and the morbidity of these interventions. The retrospective analysis of 45 patients over a 5-year period revealed extrusion of the gold weight in one (2.2%) patient and delayed infections in three (6.6%). Sixty percent of all gold-weight insertions were performed within 4 weeks after the onset of facial nerve paralysis. We strongly favor gold-weight insertion, often combined with lower-lid-shortening procedures, as a simple, reliable, reversible, and successful technique for early rehabilitation of the paralyzed eyelid. Using these guidelines, we have markedly reduced the need for tarsorrhaphies.

Eustachian tube endoscopy in patients with chronic ear disease.

OBJECTIVES/HYPOTHESIS: A paucity of research exists on trans-eustachian tube endoscopy to evaluate the status of the eustachian tube. Fuller examination of the role of the eustachian tube in chronic ear disease is needed, particularly because the eustachian tube has been implicated in the chronicity and pathogenesis of chronic ear disease. Therefore the purpose of this study was to evaluate the eustachian tube, based on observations from trans-eustachian tube endoscopy. STUDY DESIGN: Twenty-two adult patients with chronic ear disease gave informed consent to participate in a prospective, trans-eustachian tube endoscopic investigation. METHODS: Flexible, fiberoptic, nonarticulating (outside diameter of 0.5 mm) and articulating (outside diameter of 1.0 mm) endoscopes (coherent fused bundle of 3,000 pixels) were employed. The eustachian tube endoscopy was performed under general endotracheal anesthesia as the initial part of a larger, otological surgical procedure for chronic ear disease. The endoscope was passed from the middle ear (transtympanic approach) to the nasopharynx. RESULTS: The 0.5-mm endoscope passed entirely through the eustachian tube from the tympanic orifice into the pharyngeal orifice in 16% of the cases. Stenotic blockage occurred at the infundibulum in 37%, isthmus in 42%, and fossa of Rosenmuller in 5% of cases. The eustachian tube mucosa was abnormal in 64% of cases. The risk for abnormal eustachian tube mucosa was four times greater for persons with long-standing disease (> or = 20 y) than for persons without long-standing disease (<20 y). The mean therapeutic efficiency of ossicular reconstruction was higher for the subgroup with normal than for the subgroup with abnormal eustachian tube mucosa. CONCLUSIONS: The findings of trans-eustachian tube endoscopy provide objective evidence concerning eustachian tube status in persons with chronic ear disease and have implications for the timing of surgical intervention (ossicular reconstruction).

Otosyphilis: a diagnostic and therapeutic dilemma.

Traditional treatment of otosyphilis with penicillin and corticosteroids has achieved hearing improvement; however, selecting which patients with a positive fluorescent treponemal antibody absorption (FTA-ABS) test will benefit from treatment remains a problem. In order to study this problem, 18 patients with cochleovestibular dysfunction of unknown etiology and positive syphilis serology were treated with intravenous penicillin and corticosteroids. In addition, lumbar puncture and human immunodeficiency virus (HIV) testing were performed on all patients. Hearing improved in 5 (31%) of 16 patients, tinnitus decreased in 11 (85%) of 13, and vertigo improved in 6 (86%) of 7. Factors associated with hearing improvement were hearing loss present less than 5 years, fluctuating hearing, and age less than 60. Improvement was unrelated to the severity of the loss or previous therapy. All patients with cerebrospinal fluid abnormalities, including two patients with HIV disease, had subjective improvements. A diagnostic and treatment protocol is presented.

Promontory stimulation following labyrinthectomy: implications for cochlear implantation.

Transtympanic electric promontory stimulation is a psychoacoustic test used to assess residual acoustic neurons in profound sensorineural hearing loss. The test was performed in six patients who had previously undergone transmastoid (N = 5) or transcanal-oval window (N = 1) labyrinthectomy as a means of determining the feasibility of future cochlear implantation. Four patients had unilateral Meniere's disease, one had labyrinthitis, and one had delayed onset vertigo. All patients perceived a definite auditory sensation in the labyrinthectomized ear during stimulation. The results of threshold, dynamic range, and difference limen testing were similar to those obtained during preoperative stimulation of cochlear implant candidates (N = 12) who subsequently became successful users. There was no evidence of response degradations as the time following labyrinthectomy increased. The results of this study suggest the possibility of successful cochlear implantation following labyrinthectomy. Supporting histologic data are reviewed.

Clinical evaluation of the monothermal caloric test.

The Torok Monothermal Caloric Test has been described as offering a strong advantage over bithermal caloric testing because it can distinguish labyrinthine from retrolabyrinthine lesions. Weak and strong irrigations of room-temperature water are administered to each ear and the ratios of strong to weak nystagmus responses compared to those of normal individuals. Ratios that fall below normal are said to represent decruitment and to denote retrolabyrinthine disease. Ratios that exceed normal are said to represent recruitment and to denote labyrinthine lesions. We attempted to verify the clinical value of the Monothermal Caloric Test by examining patients with known labyrinthine (N = 9) and retrolabyrinthine (N = 25) lesions. Ten patients with dysequilibrium and nonlocalizing testing were also examined. The test was performed exactly as described by the originator. Decruitment was found either unilaterally or bilaterally in 56% of patients with retrolabyrinthine lesions. However, it occurred on the side of the lesion in only 42%. Decruitment was also found in 47% of patients without retrolabyrinthine lesions, including 63% of those with unilateral Meniere's disease. Recruitment was never found on the side of a labyrinthine lesion. A description of the test and a summary of our results are presented. We conclude that the Monothermal Caloric Test is moderately sensitive to the presence of retrolabyrinthine lesions, but lateralizes poorly and is not highly selective. The test was found to be insensitive to the presence of labyrinthine disease.

Outer table graft in middle fossa surgery.

We describe a surgical technique in which the middle fossa craniotomy ordinarily used for facial nerve decompression and related surgery is extended superiorly to allow the harvest of a split-thickness calvarial graft. This graft allows the tegmen defect in middle fossa surgery to be repaired without shortening the original craniotomy plate. Avoiding the usual temporoparietal depression after middle cranial fossa surgery is both a structural and cosmetic benefit for the patient.

Otologic neurotologic manifestations of HIV-related disease.

Human immunodeficiency virus (HIV), the causative agent of acquired immunodeficiency syndrome (AIDS), has reached worldwide epidemic proportions and is increasing. Otologists, neurotologists, and audiologists practicing in metropolitan centers in North America can expect to encounter patients with HIV-related illnesses, including patients with AIDS-related complex (ARC) and AIDS. Five representative cases are presented: chronic otitis media, facial palsy, Gradenigo's syndrome with facial paralysis, otosyphilis, and Kaposi sarcoma of the mastoid. The common link in all cases was HIV infection. This presentation discusses the management of several HIV-infected patients with otologic and neurotologic findings. HIV infection has extended to all parts of North America. The worldwide incidence is increasing. As the epidemic continues to unfold, new challenges to both the diagnosis and treatment of otologic and neurotologic disease in HIV-positive patients will confront the audiologist and otolaryngologist. Recommendations for the safety of the examining audiologist and treating physician are given.

Early gold weight eyelid implantation for facial paralysis.

Facial paralysis can result in serious keratopathy because of corneal exposure and inadequate lacrimation. Thirty-seven patients underwent thirty-eight gold weight upper lid implants to rehabilitate paralysis of the eyelid from various causes. When indicated, implantation was combined with lower lid ectropion repair, medial canthoplasty or brow lift. Because of encouraging results in patients with longstanding facial paralysis, "early" implantation (within 1 month of paralysis) was offered to patients with severe lagophthalmos in whom (1) a severe neural injury was documented at the time of transtemporal surgery or (2) delayed, incomplete return of function was expected. Gold weight implantation resulted in excellent eyelid closure, protection, and cosmesis. There were no infections or extrusions. Lagophthalmos and exposure keratitis resolved or were significantly improved in all patients, and most were able to dispense with eyedrops and salves. Visual acuity improved in 95% of patients--a benefit even those without preoperative keratitis often achieved. A mild worsening of one patient's pre-existing astigmatism developed, which resolved after reimplantation with a lighter weight. The implant is easily removed from those patients who, having undergone early implantation, eventually recover adequate function. Gold weight loading has become our procedure of choice for eyelid rehabilitation.

Bone conduction impairment in chronic ear disease.

The preoperative and postoperative bone conduction (BC) thresholds were prospectively investigated in 24 patients with chronic ear disease in the form of cholesteatoma, chronic suppurative otitis media, or adhesive otitis media. All underwent tympanoplasty with mastoidectomy. Ossicular reconstruction was performed in 14, and the remaining 10 were still awaiting second-stage ossicular reconstruction at the time of this investigation. In each group, the postoperative results were compared with the preoperative results by the paired-samples t-test. In the ossicular reconstruction group, the results revealed a significant improvement in the postoperative BC thresholds, as compared with the preoperative BC thresholds, at 250, 1,000, and 2,000 Hz, with the largest mean improvement observed at 2,000 Hz. No significant improvement was observed at any frequency for the group without ossicular reconstruction. Postoperative improvement of at least 10 dB at 2 or more frequencies was observed in 71% of the ossicular reconstruction group, as compared with 0% of the group that did not undergo ossicular reconstruction. The results support the theory that the elevated BC thresholds of patients with chronic ear disease result from the elimination, due to disease, of the middle ear contribution (from the inertial ossicular component and ossicular resonance) to the BC response. The results also suggest that the middle ear contribution to the BC response is restored with ossicular reconstruction.

Office management of the dizzy patient.

This article has attempted to set out in a logical, step by step fashion the approach to a dizzy or vertiginous patient. All that has been said will not apply to every patient. The investigator must above all be patient and thorough in obtaining the history--this is by far the most important step in the process. The physical examination is tailored to the complaint. Investigations include examinations of hearing, balance, serum chemistry, and radiology. Most otolaryngologists limit themselves to the diagnosis and limited medical management of dizziness and vertigo. It is required, however, that any physician treating dizzy patients have an understanding of the larger medical and surgical picture. A systematic and thorough approach to the dizzy patient will often yield the diagnosis, exclude otologic causes for imbalance, and ultimately set the patient on a proper course of treatment.

Cochlear implantation. Practical information for the generalist.

The diagnosis and investigation of a patient with bilateral, severe-to-profound sensorineural hearing loss is presented. The steps toward cochlear implantation, including tests of audition, balance, radiographic imaging, and the pre- and postrehabilitation period, are reviewed. The two major cochlear implants available today, and future developments within the cochlear implant, are presented.

[Rehabilitation of the eye in patients with facial paralyses: indications and results of gold weight implantation]. / Rehabilitation des Auges bei Patienten mit Fazialisparalysen: Indikationen und Resultate von Gold-Gewicht-Implantaten.

BACKGROUND: Upper-lid gold weight insertions in patients with long-standing facial palsy allow closure of the eye through an increased gravitational pull on the relaxed eyelid and complete opening without restriction of the peripheral visual field. MATERIALS AND METHODS: Between 1990 and 1995, 45 patients underwent eyelid rehabilitation for facial nerve paralysis at the New York Eye & Ear Infirmary. Their charts and outcomes were reviewed retrospectively. Twelve patients were followed prospectively at the University Hospital Zurich since December 1995. RESULTS: One gold weight extruded twice in one patient. Delayed infections 1-3 months after surgery occurred in 6.6% and could be treated without removal of the gold weight. Tarsorrhaphies were necessary in 11%. Overall one third of all patients had their gold weight removed during this 5-year observation period. They all had return of their facial movements and did not require further lid loading. All prospectively evaluated patients had a marked improvement of their dry eye symptoms and a better quality of life. CONCLUSION: The analysis of 57 patients indicates, that gold weight insertions are a simple, reliable, reversible and successful technique for early rehabilitation of the paralyzed eyelid, often combined with lower lid shortening procedures. We favor early implantation in patients with severe facial nerve injury, concomitant Vth nerve palsy, inadequate patient compliance, in patients with one eye only or with disturbing dry eye symptoms.

Otosyphilis: diagnostic and therapeutic update.

The thorough investigation of patients presenting with sudden or fluctuating hearing loss, ringing or vertigo includes serology to exclude otosyphilis. Treatment of otosyphilis with penicillin and corticosteroids has achieved improvement in hearing, tinnitus and vertigo, but not in all patients. Selecting which patient with positive serology will benefit from treatment remains a difficult clinical problem. All patients presenting to The New York Eye and Ear Infirmary with cochleovestibular dysfunction of unknown aetiology and positive syphilis serology were assumed to have otosyphilis and were treated with intravenous penicillin, if non-allergic, and steroids. Lumbar puncture and HIV testing were performed. Eighteen patients were treated. Hearing (SRT and/or discrimination) improved in 4 of 16 patients with hearing loss (25%), tinnitus decreased in 10 of 14 (71%) and dysequilibrium improved in 6 of 9 (66%). Factors associated with a good response included fluctuating symptoms, especially hearing, hearing loss less than five years, and age less than 60. Improvement was unrelated to the severity of the loss or previous therapy. Patients with CSF abnormalities, including two patients with HIV disease, had subjective improvement. A summary of our results and a treatment protocol are presented.

Unilateral aural atresia in childhood: case selection and rehabilitation.

The classic management of children and adolescents with unilateral aural atresia, with or without microtia, is to assess audition, to exclude cholesteatoma formation both clinically and radiologically, to offer amplification in unilateral cases, and to consider surgical repair in bilateral cases. However, evidence indicates that children with unilateral hearing loss from any cause are at risk for delayed language development, attention deficit, and poor school performance. Favourable factors for reconstruction of hearing include a normal bone line with good word discrimination, a normal or recognizable auricle (microtia grade I or II), radiographic evidence of an air-containing middle ear cleft with an estimated volume close to the normal side, the presence of ossicles, the facial nerve running in its expected (though abnormal) course, and the absence of any syndrome affecting mid-face development or of any associated mandibular malformation. In unilateral pediatric cases, only minor auricular malformations (grades I and II) were considered for otologic repair. If microtia was more severe (grade III and IV), or if the child had any other mid-face or mandibular problem, otologic repair was delayed until these were corrected. In many cases, otologic repair was deferred throughout childhood. A summary of selection criteria, case examples, and outcomes of surgery will be presented. Carefully selected unilateral cases may be reconstructed during childhood. Unfavourable cases should be amplified or observed.

Choroid plexus papilloma of the cerebellopontine angle.

Choroid plexus papillomas are rare tumors, representing less than 1% of all intracranial neoplasms in our review of the English literature. Derived from the neuroepithelial cells of the choroid plexus, these tumors recapitulate the structure of the normal choroid plexus, often demonstrating a well-developed papillary architecture. This tumor most commonly affects children and typically arises in the lateral ventricles. Before 1992, 26 cases have been reported arising in the cerebellopontine angle. We describe an example of choroid plexus papilloma of the cerebellopontine angle that was initially diagnosed as metastatic papillary carcinoma. A metastatic disease workup revealed a right thyroid lobe nodule. Fine needle aspiration biopsy of this nodule yielded a few atypical cells, but no evidence of papillary carcinoma. We performed additional laboratory investigations to rule out the possibility of a primary papillary carcinoma of the thyroid gland and to make a definitive diagnosis of a choroid plexus papilloma. This article reviews choroid plexus papilloma of the cerebellopontine angle and demonstrates the use of immunohistochemistry to differentiate this benign primary neoplasm from well-differentiated metastatic papillary carcinoma.

Leiomyoma of the external auditory canal.

The differental diagnosis of aural polyps includes both benign and malignant processes, including carcinoma. We present the case of a polyp arising after trauma to the ear. The entire external auditory meatus was occluded, causing a maximal conductive hearing loss on the affected side. This did not appear to be a typical aural polyp and carcinoma was suspected. Biopsy revealed the mass to be a leiomyoma of the external auditory canal. This benign tumor was treated by complete excision. The clinical and pathological findings of this extremely rare tumor of the external auditory canal are described. To our knowledge, this is the first reported case of leiomyoma arising from the external auditory canal in the English literature.