Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion.
OBJECTIVE
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.


METHODS
The medical records and high-resolution MR images (section thickness < or =3 mm and in-plane resolution < or =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).


CONCLUSIONS
These findings suggest that olfactory abnormalities detectable on high-resolution MR imaging are among the most prevalent features of CHARGE syndrome.
Blustajn
J
J
Fondation Ophtalmologique Adolphe de Rothschild, Paris, France. jerry.blustajn@gmail.com
Kirsch
C F E
CF
Panigrahy
A
A
Netchine
I
I
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D015820:Cadherins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000175:diagnosis* / Q000235:genetics; D015331:Cohort Studies; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D004292:Dominance, Cerebral / Q000502:physiology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009830:Olfactory Bulb / Q000002:abnormalities* / Q000473:pathology; D012189:Retrospective Studies; D013577:Syndrome
C121291:CDH7 protein, human; D015820:Cadherins