A case of ataxic diplegia, mental retardation, congenital nystagmus and abnormal auditory brain stem responses showing only waves I and II.
A three-year-old boy who had ataxic diplegia, mental retardation, horizontal pendular nystagmus with head nodding and abnormal auditory brain stem responses showing only waves I and II was presented. His clinical features coincided with recent reports in the Japanese literature of cases of a new syndrome that is congenital in origin and seen only in boys.
D001306:Auditory Pathways / Q000503:physiopathology; D001933:Brain Stem / Q000503:physiopathology*; D002675:Child, Preschool; D005072:Evoked Potentials, Auditory; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D009759:Nystagmus, Pathologic / Q000151:congenital*; D010243:Paralysis / Q000151:congenital*; D013577:Syndrome