Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging.

OBJECTIVE: The primary aim was to determine whether 3D video-head-impulse-test vestibulo-ocular reflex (vHIT VOR)-gains correlate with computed tomography (CT) and magnetic resonance (MR) lesions in a series of carriers of the p.(Pro51Ser)-variant (P51S) in the COCH-gene (DFNA9). Secondary aim was to compare routine imaging with second peer review radiologic lecture. STUDY DESIGN: Analytical cross-sectional study. SETTING: Secondary referral center. PATIENTS: Twenty-four p.P51S carriers with MR and CT images. Eighteen carriers were selected of whom both 3D-vHIT and imaging data were available within a time interval of 24 months. INTERVENTIONS: All imaging data were reassessed by two independent neuroradiologists. vHIT VOR-gains were correlated with semi-circular canal (SCC) lesions. MAIN OUTCOME MEASURES: Correlation between vHIT VOR-gains and SCC lesions, and additional lesions detected during scientific lecture of imaging data. RESULTS: The average gain of the ipsilateral labyrinth was significantly lower when positive CT (0.3215; p = 0.0122) and MR results (0.3215; p = 0.0134).92% of ears presented MR lesions on at least one SCC, whereas this was 75% on CT. The posterior SCC is the most frequently affected on MR and CT. Second lecture led to nine additional MR and 16 CT lesions. CONCLUSIONS: Significant correlation was observed between radiological lesions at any SCC and lower average gain of the three ipsilateral SCC. The substantially larger number of lesions during scientific assessment stresses the need to fully inform radiologists concerning differential diagnosis to facilitate accurate diagnosis when planning imaging. Focal sclerosis and narrowing of SCC in DFNA9 represent a possible biomarker of advanced stages of otovestibular deterioration.

Imaging in Myotonic Dystrophy Type 1 - Case Reports.

Myotonic dystrophy type 1 (DM1) is the most common of the muscular dystrophies. It is an autosomal dominant neuromuscular disorder with multisystem involvement, including the central nervous system. Two DNA-proven cases are presented. Patients reported are siblings showing features of DM1 on magnetic resonance imaging (MRI). These features include T2 and FLAIR hyperintensities in the periventricular, deep, and subcortical white matter, with frequent involvement of the anterior temporal lobe. Other features include general brain atrophy and enlarged Virchow-Robin spaces. Subcortical white matter lesions anterior in the temporal lobe are the most specific imaging finding, and a short differential diagnosis is discussed.

Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link?

HYPOTHESIS: Focal sclerosis of one or more semicircular canals on computed tomographic (CT) scans and a corresponding signal loss on magnetic resonance (MR) imaging are radiologic lesions that are linked to patients who are suffering from advanced otovestibular impairment caused by hereditary DFNA9 hearing loss. BACKGROUND: DFNA9 is a hereditary hearing loss that is characterized by late-onset progressive imbalance and hearing deterioration, caused by mutations in the COCH gene. To date, no radiologic lesions have been associated with this condition. STUDY DESIGN: A retrospective chart review SETTING: Tertiary referral center SUBJECTS: The radiologic data of 9 patients who presented between 2007 and 2012 with otovestibular deterioration caused by a mutation in the COCH gene were reviewed. RESULTS: All 9 subjects were carriers of the same c.151C > T, p.Pro51Ser (P51S) - missense mutation in the COCH gene. In 8 of them similar sclerotic lesions and/or narrowing were demonstrated in one or more semicircular canals on computed tomography CT scan, with a signal loss at corresponding areas on T2-weighted magnetic resonance (MR) images. In 1 patient, the posterior part of the vestibule was also affected. The posterior canals were affected in most cases (58%), compared with the superior (21%) and lateral canals (16%) or the vestibule (5%). Only 68.4% of the lesions on MR images were also visible on CT scans, suggesting a fibrotic process without calcification. Ears presenting radiologic lesions showed significantly more severe hearing loss (median PTA 104 dB HL) compared with unaffected ears (58 dB HL). CONCLUSION: Eight of 9 subjects with the same P51S mutation in the COCH gene showed similar radiologic lesions, affecting the PSCC in the majority of the cases. These radiologic abnormalities occurred in more advanced stages of the otovestibular deterioration, supporting the hypothesis that these lesions might represent the end phase of a low-grade chronic inflammation or protein deposition. A new phenotypic and characteristic radiologic feature of DFNA9 has been discovered.

Gadolinium-enhanced angiography for diagnosis and interventional treatment of subclavian artery stenosis prior to fistula creation.

We report the use of gadolinium-based contrast agent for both diagnostic and interventional subclavian angiography in two azotemic patients, presenting with an asymptomatic, high-grade stenosis of the left subclavian artery, ipsilateral to the site of choice for native fistula creation. Angiographic imaging performed with diluted gadolinium-based contrast material was clear enough to perform successful subclavian artery stenting, resulting in normalization of the arterial blood pressure in the afferent artery of the dialysis fistula. Clinically, no decrease in residual renal function and no other complication were noted immediately or a longer period after the interventional treatment.