Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome

Abstract

Pendred syndrome, defined as the constellation of goiter, sensori-neural hearing loss, and positive perchlorate discharge test, is the most frequent cause of congenital deafness. Newly introduced diagnostic approaches to the disease are rather expensive and complicated, therefore we evaluated the value of MRI as the sole, or adjunctive diagnostic approach, and compared it with the traditional ones. Presuming the classic triad as the gold standard, we compared MRI findings in six such defined patients with six cases having goiter, hearing loss, and normal perchlorate discharge test. Our results indicated that MRI was 83.6% sensitive and 66.7% specific in patients fulfilling all three criteria (complete), while in the 'partial' group the sensitivity and specificity were 66.7% and 100% respectively. In conclusion, MRI, although impressive as an adjunctive diagnostic tool, may not replace the holistic approach, and the latter may be more convenient, cheaper, and still more accurate. However in 'partial' cases with equivocal findings, and in relatives of the patients, MRI may be a valuable diagnostic adjunct.

Delayed diagnosis of Pendred syndrome

“…In one study, over 80% of familial cases of Pendred syndrome demonstrated structural malformations of the cochlea, identifiable by CT scan 12. Another study found MRI imaging to be 83.6% sensitive in detecting patients with Pendred syndrome 21. The Mondini malformation of the cochlea is not specific to Pendred syndrome, but is often present.…”

Experimental Fusion of Contrast Enhanced High-Field Magnetic Resonance Imaging and High-Resolution Micro-Computed Tomography in Imaging the Mouse Inner Ear

“…The demonstrated experimental fusion of imaging techniques used in this study offers useful methodology for detection and investigation of cochlear hypoplasia, vestibular dehiscence, partial or total semicircular canal aplasia, dysmorphogenesis and malformations of the vestibulo-cochlear systems in mutant mouse models that are associated with birth defects related to genetic inner ear disorders in humans, such as in Crouzon syndrome and Pendred syndrome and disorders of the vestibular system [ 19 , 24 , 25 ].…”