Hypotonia, congenital nystagmus, and abnormal auditory brainstem response

Abstract

A Taiwanese boy, 1 year, 8 months of age, is reported with poor weight gain, hypotonia, trunk ataxia, motor developmental retardation, and horizontal pendular nystagmus with only wave I on auditory brainstem responses. Our patient clinically resembled 9 patients reported in the Japanese literature. Because of its male predominance, occurrence in siblings, early onset, non-progressive course, and characteristic auditory brainstem response findings, the syndrome may be of genetic origin and attributable to a dysgenetic brainstem lesion.