Imaging of the opacified middle ear.

Middle ear opacification on imaging studies performed in a non-traumatic setting mostly reflects chronic inflammatory/infectious disease. In some of these patients an underlying cholesteatoma will be found. High-resolution computed tomography examinations and magnetic resonance imaging are often used in the work-out of the disease. High-resolution computed tomography of the opacified middle ear serves to describe the status of the ossicular chain, and its suspensory apparatus, as well as the status of the tympanic and mastoid wall. When ossicular erosions are visualized, the probability of a present cholesteatoma is about 90%. Whereas high-resolution computed tomography is not able to differentiate cholesteatoma from other types of opacification, magnetic resonance imaging is. The combined use of delayed post-Gd T1-weighted images and non-EPI based DWI seems to be the actual best option on this matter.

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

Twelve neonates presenting with nasal obstruction after birth were evaluated by imaging studies for diagnostic reasons. Four groups were recognized: Group I: choanal atresia (n = 5) and choanal stenosis (n = 1); Group II: congenital nasal pyriform aperture stenosis (CNPAS) (n = 3) and holoprosencephaly (n = 1); Group III: nasolacrimal duct mucocele (n = 1); Group IV: nasal hypoplasia (n = 1). Associated anomalies were found in eight patients. Four patients with choanal atresia showed manifestations of the CHARGE (coloboma, congenital heart defect, atretic choanae, retarded physical and neuromotor development associated with central nervous system anomalies, genital hypoplasia, and ear anomaly and/or deafness) association. In the fifth patient with choanal atresia, the diagnosis of amnion disruption sequence was made. One patient with CNPAS had a solitary maxillary central incisor (SMCI), a mild form of holoprosencephaly. Besides proboscis and synophthalmos, SMCI was also present in the holoprosencephaly case. The patient with severe nasal hypoplasia had warfarin embryopathy. This review emphasizes the need for performing imaging studies in the diagnostic workup of neonates born with nasal obstruction.

Unilateral semicircular canal aplasia in Goldenhar's syndrome.

A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism.

MR evaluation of vestibulocochlear anomalies associated with large endolymphatic duct and sac.

BACKGROUND AND PURPOSE: Large endolymphatic duct and sac (LEDS) is one of the most common anomalies seen in patients with congenital sensorineural hearing loss (SNHL), and is known to occur with other inner ear findings. Our purpose was to use high-resolution T2-weighted fast spin-echo (FSE) MR imaging to describe the features and prevalence of specific anomalies that occur in association with LEDS. METHODS: We retrospectively reviewed MR images of the inner ear obtained in 63 patients with LEDS and in 60 control subjects. We evaluated each image for features of cochlear and vestibular dysplasia, including deficiency of the cochlear modiolus, gross cochlear dysmorphism, asymmetry of the cochlear scalar chambers, enlargement of the membranous vestibule, gross vestibular dysmorphism, and abnormality of the semicircular canals (SCC). RESULTS: Cochlear anomalies were present in 76% of ears with LEDS. Modiolar deficiency, gross dysmorphism, and scalar asymmetry were seen in 94%, 71%, and 65% of abnormal cochleas, respectively. Vestibular abnormalities were present in 40% of ears with LEDS. Simple enlargement, gross dysmorphism, and distortion of the lateral SCC were seen in 84%, 16%, and 32% of abnormal vestibules, respectively. CONCLUSION: Coexistent cochlear anomalies, vestibular anomalies, or both are present in most ears with LEDS, and appear as a spectrum of lesions, ranging from subtle dymorphism to overt dysplasia. The presence of coexistent anomalies in LEDS affects treatment decisions and prognosis. Newer techniques of high-resolution FSE MR imaging provide a means of exquisite characterization of LEDS, as well as more sensitive detection of associated vestibulocochlear anomalies.

The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings.

The temporal bone CT examination of a 16-year-old female patient with the LADD syndrome or Levy-Hollister syndrome showed multiple bilateral middle as well as inner ear malformations. Ossicular chain anomalies were seen, especially of the incus and stapes. The oval window was very narrow to absent. Both cochleas were hypoplastic and showed modiolar deficiency. A common cavity between the vestibule and lateral semicircular canal was bilaterally present.

Neurocutaneous melanosis presenting with intracranial amelanotic melanoma.

We describe imaging findings in a 2-year-old girl with neurocutaneous melanosis and malignant cerebral melanoma. Because the cerebral melanoma in this child was of the amelanotic type, high-signal intensity on unenhanced T1-weighted images was not present. The cutaneous lesions played a crucial role in establishing a correct (presumed) histopathologic diagnosis on the basis of the imaging findings. To our knowledge this is the first report describing an intracranial amelanotic malignant melanoma in association with neurocutaneous melanosis.

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.

The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and absence of the patellae. It has also been called the ear-patella-short stature syndrome [Boles et al., 1994: Clin Dysmorphol 3:207-214]. We report on two brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. Both patients had severe deafness and congenital labyrinthine anomalies, which have not previously been described as features of this syndrome. The neuromotor and mental development of these patients was adversely affected by late diagnosis, deafness, and their sociocultural environment, but their cognitive ability fell within the range observed in other Meier-Gorlin patients. Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup of this rather specific, probably autosomal recessive mental retardation syndrome with multiple congenital anomalies.

Hearing loss with cochlear modiolar defects and large vestibular aqueducts.

OBJECTIVE: Defects of the cochlear modiolus have been found to be associated with most cases of large vestibular aqueduct. The clinical significance of these modiolar defects has not been studied previously. The purpose of this article is to correlate clinical (functional) parameters, such as hearing outcomes, with the severity of the radiographic findings in these dysplastic inner ears. STUDY DESIGN: The study design was a retrospective chart review, supplemented with telephone interviews and clinic visits. SETTING: The study was conducted at an academic, tertiary care center. PATIENTS: Thirty consecutive patients with large vestibular aqueducts participated. RESULTS: Scores of modiolar deficiencies yielded inconsistent correlations with hearing loss. Vestibular aqueduct morphology and thickness correlated very strongly with the severity of hearing loss. CONCLUSIONS: These observations support the hypothesis that large vestibular aqueduct-related hearing loss may be caused by transmission of subarachnoid pressure forces into the inner ear. However, the thickness and morphology of the vestibular aqueduct may simply be markers for more subtle cochlear dysplasia manifest by modiolar deficiency.

Normal modiolus: CT appearance in patients with a large vestibular aqueduct.

PURPOSE: To determine the computed tomographic (CT) appearance of the normal modiolus and the pathologic alteration in patients with a large vestibular aqueduct and an otherwise normal-appearing cochlea. MATERIALS AND METHODS: Temporal bone CT studies obtained before and after a major upgrade of CT capability in 1992 were reviewed in four groups: Group A (1.5-mm section thickness) comprised 50 normal ears in 43 patients, group B (1-mm section thickness) comprised 75 normal ears in 50 patients, group C (1.5-mm section thickness) comprised 16 ears with a large vestibular aqueduct in 10 patients, and group D (1-mm section thickness) comprised 23 ears with a large vestibular aqueduct in 12 patients. All groups comprised adult and pediatric patients. RESULTS: In groups A and B, the normal modiolus was visualized in 90% and 100% of ears, respectively. In groups C and D, with a total of 39 ears with a large vestibular aqueduct and an otherwise normal cochlea, modiolar deficiency was demonstrated in 100% of ears. CONCLUSION: CT is an excellent technique for depicting the cochlear modiolus. Results suggest that all ears with a large vestibular aqueduct have associated cochlear modiolar deficiencies. Thus, a large vestibular aqueduct may be only occasionally, if ever, an isolated developmental anomaly of the inner ear.

Normal and opacified middle ears: CT appearance of the stapes and incudostapedial joint.

PURPOSE: To establish the computed tomographic (CT) visibility of the incudostapedial joint and of the stapes superstructure in normal and opacified middle ears. MATERIALS AND METHODS: Two independent observers reviewed CT studies with 1-mm section thickness of the temporal bone in 75 normal ears and in 33 opacified middle ears (13 of which had definitive proof of disease) to establish the rate of visualization of the stapes and incudostapedial joint. RESULTS: In normal ears, both the stapes crura and the continuity between the incus and stapes were seen in almost 100% of cases, whereas the actual incudostapedial joint was identified in 86% (86 observations) and 67% (67 observations) of cases in the axial and coronal planes, respectively. The position of the incudostapedial joint was below footplate level on the axial images and mostly at or anterior to the midportion of the foot-plate on the coronal images. In 13 clinically confirmed diseased middle ears, the status of the stapes superstructure in all cases and that of the incus in 11 cases was correctly predicted with CT. CONCLUSION: It is now possible to visualize routinely the incudostapedial joint and stapes superstructure at CT. Absence of these structures in an opacified middle ear strongly indicates abnormality.

CT of the normal suspensory ligaments of the ossicles in the middle ear.

PURPOSE: To establish the range of normal variation in the CT appearance of the middle ear ligaments and the stapedius tendon as an aid in detecting abnormal changes in these structures. METHODS: CT scans of the temporal bone in 75 normal middle ears, obtained with 1-mm-thick sections, were reviewed by two observers, who rated the visibility of the structures of interest on a scale of 1 to 5. RESULTS: The anterior, superior, and lateral malleal ligaments and the medial and lateral parts of the posterior incudal ligament were seen in 68%, 46%, 95%, 26%, and 34% of the ears, respectively. The stapedius tendon was seen in 27% of the cases. When visible, the ligaments were judged to be complete in 90% to 100% of the ears and the stapedius tendon was complete in 65% of cases. Their width varied considerably. Interobserver variability was high for most observations. CONCLUSION: CT scans are more likely to show the malleal than the incudal ligaments. Although the interobserver agreement was statistically significant for most study parameters, the percentage of agreement above that expected by chance was low. When seen, the ligaments usually appeared complete. Understanding the normal range of appearance may help identify abnormalities of the ligaments and tendons of the middle ear.