Neuroaudiologic abnormalities in patients with type 1 neurofibromatosis

Although the protean manifestations of neurofibromatosis have been studied for many years, much is yet to be learned about this disease in young children. Specifically, little is known about the prevalence and significance of early neurotologic abnormalities in this population. Our review of the recent literature, however, failed to identify any publication on the use of ABR and acoustic reflex testing in the pediatric neurofibromatosis population. This study reports on a standardized differential diagnostic battery conducted on 44 children diagnosed as having neurofibromatosis. Results of the neuroaudiologic battery indicated that 32% of the children had significant abnormalities on ABR and acoustic reflex dynamic tests. This is a substantially higher prevalence of abnormalities than reported by another group at a recent NIH concensus meeting on neurofibromatosis. Discussion of the implications of these findings regarding evaluation protocols, as well as management for this select patient population, will follow.