The Auditory Brain Response (ABR) in an Infant with Joubert Sydrome

Abstract

A one-month-old male infant was diagnosed as Joubert syndrome. Before birth, agenesis of cerebellar vermis was found by magnetic resonance imaging. After birth, abnormal respiration and eye movement were observed. The infant was referred to our department for hearing examination, because hearing disturbance was suspected by screening automated auditory brain stem response (AABR). The behavioral observation audiometry test showed a positive response to only big sounds. Conditioned orientation response could not be performed because of systemic myopathy. ABR was performed at the age of 4-months under sedated condition. The ABR wave showed bilateral prolonged I-III inter peak latency, indicating impaired synchronization of nerve firing caused by brain stem malfunction. These results suggest that screening hearing test using AABR is not useful in a patient with brain stem malfunction.