DIAGNOSIS OF PENDRED SYNDROME: MRI VERSUS OTHER TRADITIONAL CRITERIA

Background and Pendred syndrome, defined traditionally as the constellation of goiter, sensori-neural hearing loss and positive perchlorate discharge test. Since the relatively newer approaches to the diagnosis of this syndrome, as MRI and genetic and/or molecular analysis are much more expensive and complicated than the traditional approaches, we planned to study the value and reliability of MRI as the sole, or adjunctive diagnostic approach to the syndrome. We presumed the classic triad is still the most widely accepted gold standard, and compared MRI findings in six such defined patients with six seemingly incomplete forms with goiter and hearing loss, but with negative Perchlorate discharge test. There were a sensitivity and specificity of 83.3% and 66.7%, respectively for MRI in patients fulfilling all three criteria and 66.7% and 100% for sensitivity and specificity in the group lacking perchlorate test positivity. Although MRI can not replace the holistic approach, In "partial" cases with equivocal findings, and in the evaluation of relatives of the patients MRI may be considered as a valuable diagnostic adjunct.