A 12 month old male infant with the CHARGE syndrome (Coloboma, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, Ear anomalies or deafness) is reported from the Departments of Pediatrics and Neurology, Loyola University, Chicago. The infant was admitted with repeated cyanotic episodes and generalized seizures. CT revealed agenesis of the cerebellar vermis and a large fourth ventricular cyst. Brain stem auditory evoked responses showed dysfunction of the distal VIII nerve. [1]

COMMENT. This patient also had Joubert’s syndrome (agenesis of the cerebellar vermis, respiratory irregularities, ocular colobomas). Chromosomes were normal. The authors believe that these two syndromes are a single disorder with an overlap of characteristic features.

Various associated abnormalities of brain development may be detected by studies of evoked potentials [2]. Auditory brain stem responses were abnormal in cases of holoprosencephaly, lissencephaly, pachygyria and generalized megalencephaly. Visual evoked potentials were normal in collosal agenesis, holoprosencephaly and colpocephaly; they were abnormal in septal optic dysplasia and optic nerve hypoplasia.