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AJNR - American Journal of Neuroradiology

Published ahead of print on April 16, 2008
doi: 10.3174/ajnr.A1099

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American Journal of Neuroradiology 29:1266-1269, August 2008
© 2008 American Society of Neuroradiology

PEDIATRICS

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

J. Blustajn^a, C.F.E. Kirsch^b, A. Panigrahy^c and I. Netchine^d

^a Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
^b David Geffen School of Medicine at the University of California, Los Angeles, Calif
^c Children's Hospital, University of Southern California, Los Angeles, Calif
^d APHP, Hôpital Armand-Trousseau, Explorations Fonctionnelles Endocriniennes and Université Pierre et Marie Curie-Paris 6, Paris, France

Please address correspondence to Jerry Blustajn, MD, La Fondation Ophtalmologique Adolphe de Rothschild, Service d'Imagerie Médicale, 25 rue Manin, 75019, Paris, France; e-mail: jerry.blustajn{at}gmail.com

BACKGROUND AND PURPOSE: CHARGE syndrome is a genetic disorder resulting in the association of multiple congenital anomalies. Although a high prevalence of olfactory anomalies in CHARGE syndrome has been reported in autopsy and functional studies, to our knowledge, such anomalies have not been included among the diagnostic criteria, and their radiographic prevalence has not been assessed. The purpose of this research was to determine the radiographic prevalence of olfactory anomalies in a small sample of subjects with diagnosed CHARGE syndrome.

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.

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