ORIGINAL RESEARCH Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion

MATERIALS AND METHODS: The medical records and high-resolution MR images (section thickness 3 mm and in-plane resolution 1 mm) in 10 patients with clinically proved CHARGE syndrome were retrospectively reviewed by 3 neuroradiologists who consensually evaluated the status of the olfactory bulbs and sulci as either normal, hypoplastic, or absent. The prevalence (p) of congenital anomalies found in the medical records and of the olfactory structures was calculated with a 95% confidence interval (CI). RESULTS: MR imaging demonstrated olfactory anomalies in all 10 patients, including either absence or hypoplasia of the olfactory bulbs and olfactory sulci (p, 100%; CI, 0.65–1.00). CONCLUSION: These findings suggest that olfactory abnormalities detectable on high-resolution MR imaging are among the most prevalent features of CHARGE syndrome.