Conductive hearing loss in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome is a rare genetic overgrowth syndrome presenting with organomegaly, abdominal wall defects, macroglossia, and postnatal hypoglycemia. Head and neck manifestations of this abnormality include flame nevus of the forehead and characteristic sulci of the ear lobe. We present a 7-year-old child with Beckwith-Wiedemann syndrome and a rare finding of conductive hearing loss on both sides due to congenital malleus and stapedial fixation. Small fenestra stapedotomy and mobilization of malleus fixation in the epitympanum improved the child's hearing. The bony fixation of the malleus and stapes is explained as atavism of the processus anterior mallei and peripheral lamina stapedialis in embryological development.     

Exploratory tympanotomy revealing incus discontinuity and stapedial otosclerosis as a cause of conductive hearing loss.

OBJECTIVE: To describe a unilateral progressive conductive hearing loss caused by incus discontinuity (without erosion of the long process of the incus), and otosclerosis with fixation of the stapedial footplate. STUDY DESIGN: Case report. SETTING: Department of Otolaryngology, Head and Neck Surgery of the University of Rochester Medical Center, which is a regional tertiary referral center. PATIENT: A 54-year-old woman with multiple otologic complaints including tympanic membrane perforations, otalgia, tinnitus, and hearing loss. Audiography demonstrated 100% speech discrimination bilaterally and a significant conductive right-sided hearing loss. INTERVENTION: The patient underwent a stapedectomy, during which a discontinuity between the long process of the incus and the stapes with no bony erosion was identified. The stapedectomy was completed and an ossicular piston prosthesis was inserted to reestablish ossicular continuity with the tympanic membrane. MAIN OUTCOME MEASURE: Improved subjective hearing confirmed objectively by audiography. CONCLUSION: This is the third reported case of an unusual combination of otosclerosis and ossicular discontinuity, and the first such case report in a patient without head trauma. In addition, it adds a unique item to the differential diagnosis of the pathologic features implicated in an ear with a conductive deficit and normal tympanogram.     

Low frequency air-bone gap in Menière's disease without middle ear pathology. A preliminary report

The audiograms of some patients suffering from Meniere's disease show an unexplained conductive component, or air-bone gap (ABG), predominantly in the low frequencies. Neither the history nor physical findings support poor eustachian tube function, ossicular chain abnormalities, chronic ear disease, physical trauma, or otosclerosis as a cause of this audiometric finding. In the present study, 40 patients diagnosed as suffering from classical Meniere's disease were evaluated audiometrically. Thirteen (32.5%) of these patients demonstrated a low frequency ABG. An otologic evaluation was performed on each patient who exhibited the abnormal finding, but no middle ear pathology was discovered. An otherwise unexplained low frequency ABG in patients with Meniere's disease suggests the possibility of an "inner ear" conductive hearing loss. This conductive component may result from endolymphatic hydrops or perilymphatic hypertension (i.e., an inner ear hyperpressure exerted against the medial surface of the stapedial footplate) rather than from middle ear pathology. "Inner ear" conductive hearing loss is thought to be caused by an increase in inner ear fluid volume (endolymphatic hydrops) and pressure (endolymphatic or perilymphatic hypertension), which dampens footplate mobility medially and which is directly related to a relative inner ear or labyrinthine hyperpressure. Since the footplate mobility is only dampened and not fixed, a stapedial reflex may still be elicited.     

Osteogenesis imperfecta of the stapes: an histological study.

Two cases of Van der Hoeve's Syndrome are presented with histological findings consistent with the diagnosis of osteogenesis imperfecta. These findings support the view that otosclerosis can be clearly differentiated histologically from osteogenesis imperfecta. Pre-operative impedance studies are recommended on each patient with osteogenesis imperfecta as a useful diagnostic adjunct to determine whether the conductive component in the hearing loss is secondary to stapedial crural deformity and/or footplate fixation.     

Stapesfixation bei Kindern.

BACKGROUND AND OBJECTIVE: The audiometric results after stapes surgery in children with isolated stapes footplate fixation were reason enough to analyze intraoperative findings and surgical procedures. PATIENTS/METHODS: A total of 438 stapes surgeries were performed in the years 1985-2000, and a retrospective analysis was made of the anamnestic data, intraoperative findings and audiometric data from 12 children with isolated fixation of the stapes footplate. The average age of the children when operated was 10.2 years (the youngest was 7 and the eldest 13). A loss of hearing had set in 5 years earlier. RESULTS: Taking the anamnestic data and the intraoperative into account, otosclerosis was found in 5 children. One child had a narrow oval window niche, in a further six children a congenital fixation of the stapes footplate was evident. Only 58% (n=7) of the 12 children operated showed acceptable postoperative hearing results. The best hearing results were found in children with juvenile otosclerosis. In three of six children with congenital stapes fixation, a worsening of both bone and air conduction was evident. The average conductive hearing loss was 30 dB at 1, 2 and 4 kHz. CONCLUSIONS: When explorative tympanotomy is indicated, a thin-layer CT scan of the temporal bone should be made to assess the risk of a liquor pressure labyrinth developing.     

Camurati-Engelmann disease presenting as ‘juvenile otosclerosis’

Camurati-Engelmann disease (CED, MIM # 131300) was diagnosed in a 27-year-old woman, who had pain in her lower legs. There was no history of hearing loss (or CED) in her family. She had been suffering from progressive hearing impairment since childhood. Serial audiograms demonstrated progressive mixed hearing loss from the age of 11 years onwards, for which she underwent successful stapes surgery bilaterally at the age of 13–18 years. Clinical (‘juvenile’) otosclerosis was found with stapes footplate fixation. Unfortunately, the sensorineural hearing loss component proved to be progressive bilaterally after surgery. At the age of 30 years, she experienced more rapid deterioration of her hearing loss in the right ear and episodes of vertigo. Vestibular examinations demonstrated progressive vestibular impairment, ‘otospongiotic’ lesions with encroachment on the cochlear and vestibular labyrinth were found on high resolution CT scans at the age of 40 years; the internal auditory canal was normal bilaterally. CED may have formed a chance combination with juvenile otosclerosis in our patient, or otosclerosis may be part of the CED phenotype.     

Fixation of the stapes footplate in children: a clinical and temporal bone histopathologic study.

OBJECTIVE: To clarify the anatomic characteristics, cause, and surgical outcomes relating to fixation of the stapes footplate in children. STUDY DESIGN: Retrospective case review and four-center histopathologic study of temporal bones. SETTING: Tertiary referral center. PATIENTS: We reviewed charts and histologic specimens from 12 children, aged 7 to 13 years, who underwent surgery for footplate fixation. We also studied stapes footplates in 288 temporal bones from 181 children ranging from newborn (20-44 weeks of gestation) to 13 years of age. MAIN OUTCOME MEASURE: Anomalies of the stapes footplate in children. RESULTS: The average age of diagnosis of hearing loss was 6.6 years. Criteria for a diagnosis of otosclerosis were progression of a conductive hearing loss and an intraoperative finding of fixation of the anterior stapediovestibular joint in five patients. In contrast, a nonhomogeneous, thickened, fixed footplate and the absence of an annular ligament were indicators of congenital fixation in six children. In one child, there was neither new bone from the otic capsule nor any obvious otosclerotic foci. In the temporal bone study, 17 of 181 (9.4%) children had anomalies of the stapes footplates, with ankylosis in 4 (2.2%). In two subjects (1.1%), there was an otosclerotic focus not in contact with the stapes footplate. CONCLUSION: Children younger than 6 years with various congenital anomalies are more likely to have congenital footplate fixation, which will present intraoperatively as a thickened footplate with a partial or absent annular ligament. Children older than 6 years with progressive conductive hearing loss are more likely to have otosclerosis, which presents as fixation of the anterior stapediovestibular joint. The difference in surgical outcomes is probably related to different degrees of footplate abnormality.     

Stapes surgery in osteogenesis imperfecta patients

Osteogenesis imperfecta (OI), or the Van der Hoeve-de Kleyn syndrome, is a heterogeneous group of connective tissue disorders. The key features in this disease are bone fragility with a tendency to spontaneous fractures and deformations. The classical triad of symptoms involves a conductive and/or sensorineural hearing impairment together with a tendency to spontaneous bone fractures and blue sclerae. Between January 1988 and December 1994, ear surgery was performed on eight ears of six OI patients who presented with mixed hearing loss preoperatively. Pathological changes observed in the middle ear were atrophy and/or fractures of the stapedial crura in combination with thickening and fixation of the stapes footplate. Partial stapedectomy was performed in seven cases and a neo-window was created in the promontory of one patient when an overhanging facial canal obscured visualization of the oval window niche. Pre- and postoperative bone conduction thresholds did not differ in any of the patients. Postoperatively, mean values of the air-bone gap in the main speech frequency range were below 10 dB. Functional results following stapes surgery in patients with otosclerosis during the same time interval (n = 857) did not differ significantly. These data indicate that stapes surgery in OI patients can be performed with the same functional predictability as in otosclerosis patients, even though the underlying etiology is considerably different. The results were presented in part at the 66th annual meeting of the German Society for Otorhinolaryngology-Head and Neck Surgery (Deutsche Gesellschaft für Hals-Nasen-Ohrenheilkunde, Kopf- und Halschirurgie), Karlsruhe, 27–31 May 1995     

Hearing preservation in perilymphatic fistula due to a congenital fistula in an adult

Congenital fistula in the stapedial footplate usually can be diagnosed by the recurrence of meningitis caused by spontaneous cerebrospinal fluid (CSF) in infants or young children. We report the case of a 65-year-old woman, who was initially diagnosed as having an acquired perilymphatic fistula caused by aural barotrauma and demonstrated episodic vertigo and fluctuant sensorineural hearing loss in the right ear after air travel. Surgical exploration showed a congenital circular defect in the peripheral part of the stapedial footplate with leakage of CSF. The fistula was closed by inserting a tiny piece of fascia attached to both the tympanic and perilymphatic side of the stapedial footplate utilizing the back-pressure of perilymphatic fluid and fibrin glue; hearing was preserved.     

Otosclerosis: etiopathogenesis and histopathology

Otosclerosis is a disease of the bony labyrinth manifesting clinically as a progressive conductive hearing loss, a mixed-type hearing loss, or a sensorineural hearing loss. The age of onset of the hearing loss caused by otosclerosis is principally between 15 and 40 years. Although histopathological inner ear changes due to otosclerosis have been very well documented, the true etiopathogenesis of the disease has yet to be described despite intensive research. Both genetic and environmental factors have been implicated, however.     

Is it possible to predict diffuse obliterative otosclerosis preoperatively by audiologic examination

Patients with diffuse obliterative otosclerosis have more extensive footplate pathology than annular cases. As a result of this more skill is required for diffuse otosclerosis cases, and postoperative hearing results are usually worse than annular cases. In this retrospective study we compared the preoperative audiological features of annular and diffuse otosclerosis patients. The subjects were 60 patients with conductive hearing loss who had undergone stapedectomy. Annular and diffuse groups were comprised of 30 patients each. Annular otosclerosis was defined as the footplate pathology involving the annular ligament only, where the footplate of the stapes is very thin and retains its bluish color. On the other hand diffuse, obliterative otosclerosis was defined as the pathology involving the whole footplate and also in some cases extending beyond the confines of the annular ligament. In each group preoperative air- and bone-conduction levels at 125–6000 Hz and 500–4000 Hz were noted respectively. Average air-bone gap for the obliterative otosclerosis group was 37.5 dB; the same value for the annular group was 23.8 dB (p<0.05). The gap characteristics of the audiogram were different for the two groups. The annular group had an air-bone gap which was nearly constant for all the frequencies. In the diffuse otosclerosis group, the air-bone gap was more prominent in the low frequencies and it decreased at higher frequencies. No difference was noted in bone-conduction thresholds, and Carhart notch between the two groups. This study demonstrated that a large air-bone gap in patients with conductive hearing loss may be a sign of diffuse obliterative otosclerosis. This may warn the surgeon that a more challenging surgery is possible, and the patient may have a less favorable hearing result. Therefore, in the presence of a large air-bone gap, it may be appropriate to inform the patient of the strong possibility of diffuse otosclerosis.     

Is it possible to predict diffuse obliterative otosclerosis preoperatively by audiologic examination

Patients with diffuse obliterative otosclerosis have more extensive footplate pathology than annular cases. As a result of this more skill is required for diffuse otosclerosis cases, and postoperative hearing results are usually worse than annular cases. In this retrospective study we compared the preoperative audiological features of annular and diffuse otosclerosis patients. The subjects were 60 patients with conductive hearing loss who had undergone stapedectomy. Annular and diffuse groups were comprised of 30 patients each. Annular otosclerosis was defined as the footplate pathology involving the annular ligament only, where the footplate of the stapes is very thin and retains its bluish color. On the other hand diffuse, obliterative otosclerosis was defined as the pathology involving the whole footplate and also in some cases extending beyond the confines of the annular ligament. In each group preoperative air- and bone-conduction levels at 125-6000 Hz and 500-4000 Hz were noted respectively. Average air-bone gap for the obliterative otosclerosis group was 37.5 dB; the same value for the annular group was 23.8 dB (p<0.05). The gap characteristics of the audiogram were different for the two groups. The annular group had an air-bone gap which was nearly constant for all the frequencies. In the diffuse otosclerosis group, the air-bone gap was more prominent in the low frequencies and it decreased at higher frequencies. No difference was noted in bone-conduction thresholds, and Carhart notch between the two groups. This study demonstrated that a large air-bone gap in patients with conductive hearing loss may be a sign of diffuse obliterative otosclerosis. This may warn the surgeon that a more challenging surgery is possible, and the patient may have a less favorable hearing result. Therefore, in the presence of a large air-bone gap, it may be appropriate to inform the patient of the strong possibility of diffuse otosclerosis.     

Dislocation of stapes with footplate fracture caused by indirect trauma

We report the first case of isolated stapedial dislocation caused by indirect head trauma, and present imaging and surgical findings in the case of a 25-year-old woman who suffered hearing loss and dizziness after head trauma caused by a traffic accident. The pure tone average was 60 dB, with an air-bone gap of 50 dB. The stapedial reflex was positive with the probe on the affected ear. Computed tomography scans revealed a longitudinal fracture of the temporal bone and a dislocated stapedial superstructure in the tympanic cavity, adhering to the tympanic membrane. During surgery, it was found that the stapes was broken at the base of the posterior crus and at the anterior one third of the footplate and that the stapedial superstructure was dislocated outward and downward, with the anterior one third of the footplate adhering to the tympanic membrane. The stapedial tendon was connected to the superstructure. Ossicular chain reconstruction was performed with success. In the present case, two mechanisms may have acted together: 1) an increase in perilymphatic pressure that caused the footplate to fracture, and 2) a distorting force that broke the posterior crus, disconnecting the incudostapedial joint, and finally dislocating the stapedial superstructure together with the anterior part of the footplate.     

Unusual case of bilateral conductive deafness

A 30-year-old female presented with a ten-year history of bilateral conductive deafness. A pre-operative diagnosis of otosclerosis was made but at tympanotomy, the stapes crura in each ear was found to be disconnected from the footplate, the ossicular chain being otherwise normal. A Teflon-wire prosthesis was used to join incus and footplate, with good results. In the absence of a history of trauma or sepsis this may be a late presentation of a congenital stapedial anomaly which has not previously been reported.     

95例镫骨畸形及耳硬化症的手术体会

目的:探讨鼓膜完整、咽鼓管通畅的传导性聋患者之镫骨手术的疗效。方法:回顾性分析95例鼓膜 完整、咽鼓管通畅的传导性聋的镫骨手术资料,比较耳硬化症、单纯中耳畸形、外耳道狭窄畸形之镫骨 卵圆窗外 科治疗的效果。结果:术后4周听阈均值显示:利用砧骨的卵圆窗开窗术优于砧骨 镫骨底板连接术(P<0.05); 3组中外耳道狭窄畸形优于耳硬化症及单纯中耳畸形组(P<0.05);生理性镫骨底板切除术与利用砧骨的卵圆 窗开窗术差异无统计学意义。随访1～3年,除镫骨撼动术(8/14)的听阈均值又同于术前水平外,其余均保持术 后近期听力水平。结论:镫骨手术应用于镫骨 卵圆窗畸形病例时有别于耳硬化症而有其特殊性     

Stapes fixation accompanied with abnormal facial nerve pathway

The patient was a 52-year-old woman. She had been aware of her bilateral hearing loss since she was 20 years old. The hearing in her left ear started to deteriorate at the age of 49. Pure-tone audiometry showed a bilateral mixed hearing loss. The hearing levels for the right ear and the left ear were 52 dB and 68 dB, respectively. There were no remarkable findings in a computed tomography (CT) scan of the temporal bone. We suspected that she had otosclerosis, and an operation was performed on her left ear. When the incudostapedial joint (I-S joint) was exposed to investigate the movement of the stapes, a soft white band that ran under the superstructure of the stapes was noted. By using a nerve monitoring system, we confirmed that the white band was the bare facial nerve. The ossicular chain was normal, except for a malformed stape due to the facial nerve, and the footplate of the stapes was fixed. Therefore, she was diagnosed as having otosclerosis with an abnormal facial nerve pathway. The malformed superstructure of the stapes was removed carefully. When the ectopic facial nerve was shifted to anteroinferior side, the oval window could be seen. Stapedotomy using a Teflon piston prosthesis was performed with no complications.     

Audiological findings in large vestibular aqueduct syndrome

An enlarged vestibular aqueduct is a congenital disorder causing early onset and progressive hearing loss in children. This paper presents the audiological findings at first presentation and the audiological evolution in 10 consecutive cases presenting with hearing loss and showing a large vestibular aqueduct on imaging. The reported onset of the hearing loss is within the first few years of life. Most of the cases (80%) showed bilateral involvement. The sex ratio was 1. Patients presented on average at age 5 with a median hearing loss of 62 dB at the speech frequencies. The hearing loss was essentially asymmetrical with an interaural difference, of 33 dB and it was a mixed type of hearing loss in 90% of the cases. The authors claim that the conductive component of this hearing loss is a pure cochlear conductive loss which may be pathognomonic for the disease. The presence of a conductive component in a child is easily misinterpreted as a middle ear ventilation problem or in case of good ventilation as an ossicular problem (type otosclerosis). In addition and in contrast to most literature data, the authors did not find evidence for stabilization of the hearing loss but they found a steady decrease of the hearing at an average rate of 4 dB/year.     

Otologic and audiologic features of Nager acrofacial dysostosis

OBJECTIVE: To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis. DESIGN: Retrospective case series. SETTING: Multidisciplinary clinic in a tertiary care children's hospital. SUBJECTS: Patients less than 18 years of age with Nager acrofacial dysostosis. METHODS: Nager syndrome is a mandibulofacial dysostosis associated with preaxial limb abnormalities and multiple craniofacial anomalies. Ten patients with Nager syndrome were reviewed. Relevant literature, 1966 to the present, was reviewed with the assistance of Medline. RESULTS: External and middle ear abnormalities are common in Nager syndrome. All non-atretic ears had significant difficulty with otitis media, requiring an average of two sets of tympanostomy tubes. Cholesteatoma was diagnosed in one patient. Pure conductive hearing loss was identified in eight patients with mixed hearing loss noted in two patients. Conductive hearing loss greater than 30 dB HL was noted in 90% (9/10) of patients, with 40% (4/10) having 55-70 dB HL loss. Although amplification was effective, results of surgical interventions to correct conductive hearing loss were inconsistent. Two patients with mixed hearing loss developed the sensorineural component in later childhood, indicating that progressive or fluctuating sensorineural hearing loss is also possible in this population. CONCLUSIONS: Pediatric patients with Nager acrofacial dysostosis exhibit conductive hearing loss due to middle and external ear pathology. Prolonged ventilation of the middle ear via tympanostomy tubes and amplification with hearing aids are often required. Some patients also demonstrate mixed hearing loss that may be progressive and should be monitored carefully. Early and aggressive management in a multidisciplinary team approach is recommended.     

Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome.

Genetic alterations that involve the inner ear and other systems may present well-defined clinical differences. We present two oriental sisters, age 34 and 26 years, with a picture of primary amenorrhea and "infantile" uterus associated with progressive hearing loss begun in infancy in the older sister, and after 20 years of age in the younger sister. The gynecologic evaluation showed uterine hypoplasia and gonadal dysgenesis in both sisters. The audiologic study showed bilateral sensorineural hearing loss with a flat-type curve in both cases, with an average threshold of 500, 1000 and 2000 Hz (PTA) in 80 dB (older sister) and 60 dB (younger sister), with recruitment measured by stapedial reflex in the second case. Vocal discrimination was 30 percent and 80 percent, respectively. The clinical picture fits Perrault's syndrome: recessive autosomal genetic alteration, with XX gonadal dysgenesis and sensorineural hearing loss.     

Verifikation der Hammerkopffixation

Malleus head fixation and otosclerosis causing conductive hearing loss are often difficult to differentiate by clinical features. Up to now exploratory anterior tympanotomy was necessary to distinguish these pathologies. The case of a 22-year-old male suffering from conductive hearing loss of the right ear is presented. Otosclerosis was suspected and high-resolution CT scanning of the petrous bone was performed. The diagnosis was confirmed radiologically by the detection of an isolated malleus head fixation. Instead of explorative anterior tympanotomy, radiological and audiological controls were combined for the follow-up.