X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings

PURPOSE:X-linked deafness (XLD) is a rare disease, characterized by typical cochlear incomplete partition type 3 anomaly (IP-III). Accompanying hypothalamic anomalies were also recently described. The purpose of this study was to document the temporal bone and intracranial imaging findings in a series of patients with XLD with a review of the literature, to better understand this anomaly.METHODS:The CT and MRI studied of 13 XLD patients were retrospectively evaluated. All structures of the otic capsule (OC) were subjectively and retrospectively assessed. The OC thickness and the size of the cochlea were measured and compared to the age-matched control group. Intracranial structures were also evaluated with specific attention to the hypothalamic region.RESULTS:All cases had bilateral IP-III anomaly, bulbous internal auditory canals (IACs), absent bony modiolus with preserved interscalar septa, intact cochleovestibular, and facial nerves. OC thickness was decreased in all cases compared to the control group (p<0.001). In XLD patients, the cochlea had decreased transverse dimension and increased height compared to the control group (p< 0.001). Five patients (38.4%) had bilateral cystic structures adjacent to the vestibule and/or semicircular canals (SCCs). Hypothalamus was thickened or had a lobular appearance in all cases (subtle in one). Additionally, hamartoma-like appearance of the hypothalamus was present in half.CONCLUSION:XLD is a rare inner ear anomaly that is frequently associated with hypothalamic malformations. The OC thickness of IP-III patients appears to be decreased with accompanying decreased transverse dimension of the cochlea which could have implications in electrode selection during cochlear implantation. Cystic /diverticular lesions surrounding the vestibule and semicircular canals are also frequently seen but a rarely reported finding

Congenital Facial Paralysis: Facial Nerve Hypoplasia

Facial paralysis in a newborn is called congenital facial paralysis (CFP). The major role of the physician is to differentiate the etiology of the facial paralysis whether it is traumatic or developmental. This can be achieved by history and physical examination in some cases, however diagnosis may remain uncertain despite all efforts. We herein report a case of CFP, having a normal computed tomography (CT) of the temporal bone whereas a severely hypoplasic facial nerve was seen on the magnetic resonance imaging (MRI) which helps to determine the congenital etiology.Wo

The Added Value of Diffusion Magnetic Resonance Imaging in the Diagnosis and Posttreatment Evaluation of Skull Base Chordomas

Objectives To determine the use of diffusion-weighted imaging (DWI) in the pre- and posttreatment evaluation of skull base chordomas. Design Retrospective study. Setting Tertiary care university hospital. Participants In total, 17 patients with histopathological diagnosis of chordoma who had magnetic resonance (MR) imaging and DWI were evaluated. Of them, 13 patients had posttreatment MR imaging including DWI. Main Outcome Measures Three apparent diffusion coefficient (ADC) values were obtained from tumor, and an ADC value was measured from pons for the purpose of normalization. ADC values of the subtypes of chordomas (typical and chondroid chordomas) were compared. Results Ten (59%) masses had increased signal on trace DWI at pretreatment evaluation. The mean ADC(entire) (tumor)/ADC(pons) was calculated as 1.55 +/- 0.44. The mean ADC(entire) (tumor) values of typical and chondroid chordomas were 1.26 +/- 0.29 x 10(-3) mm(2)/s and 0.99 +/- 0.46 x 10(-3) mm(2)/s, respectively. There was no statistically significant difference between ADC values of the subtypes (p > 0.05). For posttreatment evaluation, DWI enabled detection of residual tumor in the majority (85%) of cases. Conclusions DWI is useful in diagnosis and posttreatment evaluation of skull base chordomas. However, ADC values in our series did not distinguish the subtypes of chordomas.Wo

Audiological And Radiological Characteristics In Incomplete Partition Malformations

OBJECTIVE: To compare the audiological and radiological findings of patients with incomplete partition malformations (IPs) and analyze the relationship between the audiological and radiological findings. MATERIALS and METHODS: The study included 84 patients (168 ears) with IPs as follows: 26 patients with Type I; IP-I (41 ears), 54 patients with Type II; IP-II (108 ears), and 4 patients with Type III; IP-III (8 ears). Remaining 11 ears were diagnosed with other inner ear malformations. Air and bone conduction thresholds were determined with pure tone audiometry, and the air bone gap was recorded in all patients with IPs. Magnetic resonance imaging studies and computerized tomography scans of the temporal bones were analyzed using the PACS system of our university. RESULTS: It was found that all the ears with IP-I were diagnosed with severe to profound hearing loss. The degree of the hearing loss varied from mild to severe/profound in patients with IP-II. Severe to profound mixed hearing loss (MHL) was determined in all ears with IP-III. The air bone gap was larger in the lower frequencies in the IP-II cases diagnosed with MHL. There was not a significant difference between the air bone gap and the size of the vestibular aqueduct in ears with IP-II (p>0.05). CONCLUSION: Each type of IP has different audiological findings. Depending on the type and degree of the hearing loss, it is possible to choose the appropriate audiological intervention. Patients with IP should be evaluated according to the type of malformation.WoSScopu

Clinical and Radiological Findings in Patients with Newly Diagnosed Graves’ Ophthalmopathy

Background. Graves’ ophthalmopathy is the most common extrathyroidal manifestation of Graves’ disease. The objective of this study was to investigate the clinical ophthalmological and MRI findings in newly diagnosed Graves’ ophthalmopathy. Methods. This study included 36 newly diagnosed Graves’ disease patients and 23 control participants. Patients and control participants underwent detailed ophthalmologic examination. In addition, all subjects underwent orbital MRI examination; and sizes, cross-sectional areas, and signal intensities of extraocular muscles were also measured. Results. Based on MRI measurements, the mean exophthalmos in the left eye was significantly higher in the patient group when compared to those of controls (2.04 ± 0.29 vs. 1.85 ± 0.15 cm, p = 0.003). The mean long diameter of inferior oblique muscle in both the right and left eyes were significantly shorter in patients when compared to those of controls (p = 0.001, p = 0.002, resp.); however, the mean long diameter of superior oblique in the left eye was longer in patients than those of controls (p = 0.001). Patients had significantly higher superior oblique muscle signal intensity than those of controls in the right eye (p = 0.01). There was no significant difference for the other parameters between the patient and control groups. Conclusion. Our findings suggest that there is no obvious change in MRI examination despite clinical ophthalmological findings in patients with newly diagnosed Graves’ ophthalmopathy. Unnecessary MRI examination should be avoided in this patient group due to unsatisfactory cost-effectiveness

Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI

Objective: To evaluate spinal MRI features of mucopolysaccharidosis (MPS) VI and to assess the correlation with clinical findings. Methods: We retrospectively evaluated spinal MRI scans and clinical findings at the time of imaging in 14 patients (8 male, 6 female) with MPS VI. Craniometric measurements were performed and the images were assessed for bony anomalies, spinal stenosis and spinal cord compression. The degree of cervical cord compression was scored and correlated with neurological examination findings at the time of imaging. Vertebral alignment, structural changes in spinal ligaments and intervertebral discs were also assessed. Results: All patients had cervical stenosis due to bony stenosis and thickened retrodental tissue (median: 6.05 mm, range 3.3-8 mm). Retrodental tissue thickness was found to increase with age (p = 0.042). Compressive myelopathy was detected at upper cervical level in 11 (79%) and lower thoracic level in 2 patients (14%). Significant inverse correlation was found between cervical myelopathy scores and neurological strength scores. The most common bony changes were hypo/dysplastic odontoid; cervical platyspondyly with anterior inferior beaking; thoracic posterior end plate depressions and lumbar posterior scalloping. Kyphosis due to retrolisthesis of the beaked lumbar vertebrae and acute sacrococcygeal angulations were other remarkable findings. Conclusion: MRI is an essential component in evaluation of spinal involvement in MPS VI, and scanning of the entire spine is recommended to rule out thoracic cord compression. Advances in knowledge: This study provides a detailed description of spinal MRI findings in MPS VI and underlines the role of MRI in management of cord compression.Wo

Preliminary Results of Auditory Brainstem Implantation in Prelingually Deaf Children With Inner Ear Malformations Including Severe Stenosis of the Cochlear Aperture and Aplasia of the Cochlear Nerve

Objective: The aim of our study is to present the results of 11 children where auditory brainstem implantation (ABI) was successfully performed to restore hearing

Voice characteristics of acromegaly

Acromegaly’s effect on voice is still indefinite. We aimed to define acoustic characteristics of patients with acromegaly. Cross-sectional case–control study was designed. Thirty-seven patients with acromegaly and 30 age- and sex-matched healthy controls were included. Fundamental frequency (F0) and measurements related to frequency, amplitude, noise and tremor of the obtained voice sample were analyzed using Multi-Dimensional Voice Program. Absolute jitter (Jita) and jitter percent (Jitt), shimmer in decibel and shimmer percent, noise to harmonic ratio and soft phonation index, fundamental frequency tremor frequency and frequency tremor intensity index represented the parameters related to frequency, amplitude, noise and tremor of the voice sample, respectively. Patients with acromegaly, especially the uncontrolled patients, exhibited significant differences in frequency perturbation measurements. Jitt of all patients and Jita of uncontrolled patients were significantly higher than that of control group (p = 0.044 and p = 0.043, respectively). Jitter which is a measure of frequency perturbation can be assumed as an indicator of hoarse and deepened voice. Jita of all patients and Jitt of uncontrolled patients were elevated, but not reaching a statistical significance. Controlled and active patients had similar analysis of acoustic parameters. In the correlation analysis, shimmer and IGF-1 (insulin like growth factor 1) was found to be positively correlated in all patients with acromegaly and in female patients. When the p value is adjusted according to Bonferroni correction regarding the use of ten parameters for acoustic analysis (so adjusted p is \0.005), all the statistically significant findings become insignificant. Considering the parameters test different properties of voice, it is reasonable to pay attention to the findings. Patients with acromegaly have increased frequency perturbations measures, but this increase is nonsignificant according to Bonferroni correction. This may be perceptually sensed as hoarse voice. Amplitude perturbations within the voice of the patients with acromegaly are positively correlated with IGF-1 levels, this correlation is also non-significant according to Bonferroni correction