Vestibular abnormalities in charge association.
We report the vestibular abnormalities in 5 patients with the CHARGE association (Coloboma, Heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, and Ear anomalies). All patients had absent vestibular function as indicated by absent vestibulo-ocular reflexes and severe imbalance on simultaneous deprivation of proprioception and vision, as well as delayed motor development. All 6 semicircular canals were aplastic in each of the patients. While cochlear function was severely reduced in 6 of the 10 ears, it was absent only in 3 ears and was actually intact below 3 kHz in 1 ear. All 10 bony cochleas were present on computed tomography, and although 7 appeared abnormal, 3 appeared normal. This study confirms that absence of the bony semicircular canals in the presence of a bony cochlea is a characteristic finding in CHARGE association. It also demonstrates that these disproportionate structural abnormalities are reflected in the functional abnormalities: absent vestibular function with preservation of some cochlear function.
Murofushi
T
T
Department of Neuro-otology, Royal Prince Alfred Hospital, Sydney, Australia.
Ouvrier
R A
RA
Parker
G D
GD
Graham
R I
RI
da Silva
M
M
Halmagyi
G M
GM
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000150:complications*; D003051:Cochlea / Q000503:physiopathology; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006311:Hearing Disorders / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D012160:Retina / Q000473:pathology; D013701:Temporal Bone / Q000002:abnormalities; D009626:Terminology as Topic; D014057:Tomography, X-Ray Computed