The incudostapedial articulation in Down's syndrome (trisomy 21): a temporal bone study.

HYPOTHESIS: Anomaly in the incudostapedial articulation (IS) may be responsible for persistent conductive hearing loss (HL) in Down's syndrome (DS) patients. Our goal was to perform a detailed histopathologic assessment of the role of the IS joint in the conductive HL. BACKGROUND: In addition to other disabilities, 38% to 78% of patients with Down's syndrome (Trisomy 21) have CHL, some of which are persistent despite maximum treatment. The cause of the persistent conductive HL remains unclear. METHODS: Retrospective analysis of temporal bone histopathology. Analyses of the midsection through the IS joint of 21 temporal bones (13 subjects) patients with DS and 31 temporal bones (18 subjects) from healthy subjects, performed by 2 blinded authors. The length of 7 different parameters of the width of the IS joint was measured and compared between the 2 groups. RESULTS: The IS joint of patients with DS was significantly wider than the normal control. As opposed to the control, it did not decrease because of age. CONCLUSION: The persistent conductive HL in some patients with DS might be caused by anomaly of the IS joint. In severe cases, corrective surgery should be considered.

The pathogenesis of acquired cholesteatoma of the human middle ear: support for the migration hypothesis.

HYPOTHESIS: That acquired cholesteatoma of the human middle ear and mastoid process can be caused by migration of squamous epithelium from the tympanic membrane. OBJECTIVE: To provide histologic evidence in humans of the potential for medial epithelial migration toward the middle ear. BACKGROUND: The origin of cholesteatomas of the middle ear complex of humans is still not clearly understood. The most popular theory, the medial migration of squamous epithelium from the external auditory canal/tympanic membrane through a perforation of the tympanic membrane to form a cholesteatoma, was first proposed over a century ago independently by Bezold (1899) and Habermann (1899) based on their observations during surgery. Neither author had histologic proof. Despite much experimental efforts in animals, histologic evidence in the human continues to be the missing link. METHOD: We examined the histologic sections of the temporal bones of 60 children aged 1 day to 12 years with evidence of acute otitis media. We present our findings in the temporal bones of 3 infants. RESULTS: We find evidence of the propensity of the squamous epithelium of the tympanic membrane particularly in the pars flaccida to become very active and to migrate medially toward the middle ear. CONCLUSION: Our concept is that this material supports the migration theory that cholesteatomas are formed by the medial migration of the stimulated squamous epithelium of the tympanic membrane.

The incudostapedial articulation: new concepts.

HYPOTHESIS: To study the detailed anatomy of the incudostapedial joint (ISJ). BACKGROUND: Detailed study of the anatomy of the ISJ has been surprisingly neglected and continues to be controversial. METHODS: We studied the joint in 86 temporal bones from 51 subjects, aged 12 to 104 years, by light microscopy and three-dimensional images of computer-based reconstructions. RESULTS: In the course of this study, we found that the lenticular process is extremely delicate, consisting of thin trabeculae and spaces filled with areolar tissue. The ISJ is at least partially a bichambered diarthrodial joint divided by a fibrous articular disk into unequal joint spaces. This disk could be identified in all 86 specimens. In addition, we identified for the first time a concavity on the anterior face of the inferior end of the long process of the incus. The asymmetric joint capsule of the ISJ, which completely envelops the lenticular process, extends to this incudal concavity, thereby incorporating part of the long process into the joint complex. We also found that the attachment of the tendon of the stapedius muscle to be more complex than previously described with contributions to the posterior and probably the inferior joint capsule. CONCLUSION: On the basis of its finely cohesive anatomic structure, we believe that the incudostapedial articulation should be considered to be a single complex and to be a single entity physiologically.

Sensorineural hearing loss in patients with inflammatory bowel disease.

OBJECTIVE: The study aimed to discuss the association between sensorineural hearing loss (SNHL) and inflammatory bowel disease (IBD). METHODS: We reviewed cases of patients with known IBD seen in an otolaryngology practice with documentation of all otologic data including age of onset, family history of otologic problems, exposure to noise, audiometric findings, and so on. RESULTS: Of 38 patients with a history of IBD, 22 had documented SNHL. Nineteen of these had no other identifiable etiology for their inner ear dysfunction. Fourteen of these patients had a diagnosis of ulcerative colitis and 5 had Crohn disease. Sixteen patients had bilateral SNHL, and 3 patients had unilateral SNHL. Only one patient had a lasting response of SNHL to medical treatment. CONCLUSION: This review suggests that SNHL is an extraintestinal association of IBD. As IBD is considered to be a local or systemic immunopathy, the associated SNHL might also be an expression of systemic immune dysfunction.

Asymmetric agenesis of the mastoid antrum in a neonate.

The authors report a case of asymmetric development of the mastoid antrum in a neonate. The lack of mastoid development most likely represents a congenital maldevelopment. Agenesis of the mastoid antrum has surgical implications, as failure to recognize its absence can result in disorientation during surgery, with potential to injure adjacent structures.

Schwannoma of the nasal cavity.

Schwannomas are benign peripheral nerve sheath tumors that occur throughout the body. They may present as either solitary or multiple masses. They rarely occur in the nasal cavity. The diagnosis is often made only after histologic examination. Because these lesions are radioresistant, the preferred treatment is complete surgical excision. We present a new case of a schwannoma of the nasal cavity.

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.

Anomalies of the ear in the Pierre Robin triad.

OBJECTIVES: The Pierre Robin triad (PRT) consists of micrognathia-retrognathia, glossoptosis, and an oval or cleft palate. The goal of this study was to identify patterns of similarity to and differences from the two previous temporal bone studies of the PRT. METHODS: Seven children with the PRT (ages, 45 minutes to 2 years; gestational ages, 41 to 43 weeks) were studied. Thirteen temporal bones were decalcified, sectioned at a thickness of 20 microm, and studied by light microscopy. RESULTS: Our study demonstrated multiple architectural anomalies involving the entire ear, including abnormal auricles, and anomalies of the ossicles, including abnormal stapes footplates (6/13). All children showed signs of middle ear infection (12/13). Anomalies of the inner ear included aplasia of the lateral semicircular canals (5/13), a large vestibular aqueduct (2/13), and unusually large otoconia (1/13). In the mastoid process there were islands of cartilage in the expected position of Reichert's cartilage (9/13) and dehiscence of the fallopian canal (11/13). Loss of cochlear hair cells was seen in children who had antemortem hypoxia. CONCLUSIONS: Although the PRT is caused by various genes, most anomalies can be traced to the development of the first and second branchial arches.

Sensorineural hearing loss, early greying, and essential tremor: a new hereditary syndrome?

OBJECTIVE: To present a syndrome composed of sensorineural hearing loss, early greying of scalp hair, and adult-onset essential tremor. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary care academic hospital. RESULTS: Three individuals were seen with this triad, each with family members with similar features. Our patients are a 65-year-old man and two women in their 40s. Two noted hearing loss in adulthood, one as a child. All had complete greying in their 20s. The women developed essential tremor in their 20s, and the man in his 50s. All individuals have blue eyes without heterochromia. Additional evaluation failed to further categorize these patients. Each has two or more immediate family members with a combination of these findings. Molecular genetic testing suggests this is not a variant of Waardenburg syndrome. CONCLUSION: We believe this represents a previously unreported hereditary syndrome. SIGNIFICANCE: This new syndrome should be considered in the context of other syndromes involving audition, pigmentation, and movement.

The deafness of Ludwig van Beethoven: an immunopathy.

OBJECTIVE: To analyze and discuss the deafness of Ludwig van Beethoven (1770-1827) and to offer a logical theory for its etiology. METHOD: The study will carefully review the composer's symptoms as described in his letters to friends and acquaintances and also will review a large body of source material, particularly publications by his contemporaries, some of which were generously loaned by Beethoven-Haus, Bonn, Germany, where necessary translations were made directly from the original German. We will also study publications on Inflammatory Bowel Disease (IBD) and its associated extraintestinal manifestations and personal discussions with experienced gastroenterologists. RESULTS: Beethoven's abdominal symptoms that began in his teens are highly suggestive of IBD, which we believe to be a correct diagnosis. IBD is an umbrella term that includes a number of named entities such as ulcerative colitis and Crohn's Disease. IBD is now considered to be a problem of immune regulation with extra intestinal manifestations that include sensorineural hearing loss and primary sclerosing cholangitis (PSC). PSC eventually causes cirrhosis and failure of the liver. A diagnosis of IBD therefore provides a single entity that explains most of the composer's symptoms and was finally the cause of his death. Our conclusion is that Beethoven's sensorineural hearing loss was an immunopathy associated with IBD.

Hearing loss in steelband musicians.

OBJECTIVE: To determine the difference in hearing between a group of steelband musicians (pannists) and a control group. DESIGN, SETTINGS, AND SUBJECTS: We conducted a controlled cross-sectional pilot study consisting of 29 steelpan players and 30 control subjects from a steelpan orchestra (steelband) in the Otolaryngology Department of the Eric Williams Medical Sciences Complex. RESULTS: Significantly more steelpan players had a hearing loss than the control subjects at 3000 Hz, 4000 Hz, and 6000 Hz ( P < 0.01). chi 2 testing for trend demonstrated that the longer a steelpan player played his instrument the greater the hearing loss. CONCLUSION: These results indicate that pannists suffer permanent auditory damage from high-intensity sound levels and that preventative measures are required to prevent this hearing loss, particularly in younger players.

3-D reconstruction of the vestibular endorgans in pediatric temporal bones.

We investigated the vestibular endorgans in three children using 3-D reconstructions from histological sections. The right temporal bone of a newborn child without peripheral vestibular pathology was used as reference model and the temporal bones from a child with Goldenhar syndrome and a child with Pierre Robin sequence with known peripheral vestibular pathology were studied. All five temporal bones were prepared by the celloidin technique and sectioned at 20 microm. Each available section was digitized with a slide scanner. The imaging data were layered anatomically correctly and rendered in a 3-D software. With this technique all vestibular endorgans were reconstructed and measured. The standard deviations in distances ranged between 0.5 and 1.2% and in angles between 0.1 and 2.9 degrees. Both maculae were curved in the longitudinal and transverse axes which described a curve of approximately 35 degrees. The angles between the semicircular ducts varied between 97 and 110 degrees. The pathological models demonstrated a distorted configuration of the semicircular canals and differed substantially from the reference model in most of the measured distances and angles. The method presented is capable of generating 3-D models of the vestibular system from histological sections with an acceptable precision without previously inserted reference marks. Archival celloidin sections are widely available and will be an important resource in understanding the detailed 3-D geometry of the vestibular system which has not yet been accomplished.

External auditory canal duplication anomalies associated with congenital aural atresia.

Maldevelopment of the first branchial cleft can produce a broad spectrum of anomalies in its derivative structure, the external auditory canal (EAC). Failure of the cleft to develop normally can result in either the absence of a normally patent EAC (atresia, or stenosis) or a duplication anomaly (cyst, sinus, or fistula). Despite their common origins, the coexistence of these anatomical abnormalities is quite unusual. We present four patients with both aural atresia and duplication anomalies of the EAC. Three patients had non-syndromic unilateral aural atresia and presented with periauricular lesions originating from the first branchial cleft. The other patient had a variant of Treacher Collins syndrome and presented with draining infra-auricular fistulae. The classification and management of first branchial cleft anomalies is reviewed in light of these cases. An understanding of the embryogenesis of the external ear is necessary to successfully recognize and treat this spectrum of deformities. A classification system is presented that encompasses the full spectrum of first cleft anomalies.

Classification of headache and facial pain.

It is important for us as otolaryngologists to identify our critical role in diagnosing and treating the subset of patients that suffers from headaches. It is equally important for the layperson and the medical community to recognize the importance of a multidisciplinary team approach in the management of headache and facial pain. Despite its limitations, classification provides us with a starting point from which scientists, clinicians, and patients can begin to determine the success of diagnostic and therapeutic strategies. It also indicates future directions for research.

Alternative therapies in the management of headache and facial pain.

Complementary therapies are now becoming the rule rather than the exception in the management of headache and facial pain. It is incumbent on physicians to be aware of and to have a working knowledge of these increasingly popular modalities.

Ante mortem ruptures of the endolymphatic membranes in children: real finding or artifact?

We undertook this study to determine whether or not ante mortem ruptures of the endolymphatic membranes occurred naturally in the infantile labyrinth, what were the most frequent locations and to assess the statistical correlation of an earlier finding of bulging of Reissner's membrane in pediatric temporal bones. We examined 128 temporal bones from 80 children between the ages of newborn to 12 years with an average age of 15.4 months. All temporal bones were prepared by the celloidin technique and studied by light microscopy. The endolymphatic membranes of the cochlear duct, saccule, utricle and semicircular ducts were examined for ruptures. A rupture of the saccule and utricle was considered to be an ante mortem event if its edges were rolled and bound with fine adhesions and could be identified in adjacent sections. Ante mortem ruptures were seen in 11.1% of the specimens and occurred in 2.4% in Reissner's membrane, in 6.3% in the saccular membrane and in 2.4% in the utricular membrane. In these specimens, the histopathological changes included atrophy of the stria vascularis and collapse of the organ of Corti, which provided further evidence of an ante mortem event. Infants with extralabyrinthine congenital anomalies or children who were treated with chemotherapy were more likely to develop ruptures of the endolymphatic membranes if they also received aminoglycosides.

The incidence and distribution of cupular deposits in the pediatric vestibular labyrinth.

OBJECTIVES: Deposits of basophilic material on the cupulae of the semicircular ducts have been described in adult human temporal bones, and such deposits have been implicated in the clinical phenomenon of benign paroxysmal positional vertigo (BPPV). Although relatively rare, BPPV has been reported to occur in children. The goal of this study was to evaluate the occurrence of cupular deposits in pediatric material. STUDY DESIGN: Basic science, two-center histopathologic temporal bone study. METHODS: We examined 186 temporal bones from 121 individuals between the ages of newborn and 10 years. The average age was 14.7 months. All temporal bones were acquired at autopsy, embedded in celloidin, and sectioned for light microscopic study. The cupulae of the semicircular ducts were identified and any deposits found were graded according to their size and position on the cupula. RESULTS: A total of 276 cupulae were identified, and in 35 (12.7%) of these a basophilic deposit was found. In many cases the deposits contained recognizable otoconial crystals. Most deposits were small and they were almost equally distributed between the three semicircular ducts. However, the lateral and posterior cupulae were somewhat more involved than the superior cupula. Our data showed that cupular deposits are less frequently found in the pediatric labyrinth, compared with adults as reported in previous studies. CONCLUSIONS: The lower occurrence in children versus adults suggests that the deposits may be a phenomenon of the aging vestibular labyrinth.