Cockayne症候群の聴力障害について

抄録

Cockayne has described a syndrome of dwarfism with retinal atrophy and deafness in 1936 and 1946. Since then, over 130 cases have been reported.
We examined two patients with confirmed Cockayne's syndrome and assessed their hearing by means of auditory brainstem response (ABR) audiometry together with other objective audiometric measures, since conventional diagnostic audiometric procedures were not applicable to the patients because of the severity of their mental deficiency.
In a male patient who had been followed up for approximately 7 years (from the ages of 1 to 8 years), his auditory function was found to deteriorate progressively as he grew older. At the age of 1year and 5 months, his ABR waveform on both earshad been well defined with nearly normal latencies to click signals at 80dB (nHL), but at the age of 7, the ABR revealed no recognizable waves except for a questionable V wave on either ear to maximum click signals.
In another patient (9-year-old female), the ABR showed no response on both ears to click signals at the intensity limits of the equipment and she was judged as having nearly total deafness.
It is probable that the hearing losses in Cockayne's syndrome are aggrevated rapidly along with mental and physical deteriorations and possibly caused by the lesions in the retrocochlear site, particularly in the brainstem and upper central auditory pathway as a result of diffuse degenerative process in the CNS during the course of the disease.