Audiovestibular Dysfunction in Siblings with Charcot-Marie-Tooth Disease 4F: A Case Series.

BACKGROUND

Charcot-Marie-Tooth disease type 4F (CMT4F) is an autosomal recessive disorder with symptoms presenting in early adulthood. This clinical case series demonstrates atypical findings in cervical and ocular vestibular evoked myogenic potentials (VEMP) in siblings with CMT4F.

PURPOSE: The aim of this study was to highlight the audiovestibular test findings in CMT4F.

RESEARCH

DESIGN

Case series study sample: 4 siblings, 3 of whom diagnosed with CMT4F.

DATA COLLECTION AND ANALYSIS: Audiological test battery and electrophysiological tests comprising auditory brainstem response (ABR) and VEMP (both cervical and ocular) were performed in our patient population.

RESULTS

Older siblings, in whom the hearing loss was present, manifested prolonged peak V latencies in ABR. Three out of four siblings with CMT4F showed prolongation of latencies on cervical and ocular VEMP.

CONCLUSIONS

In many neurodegenerative conditions, prolongation of ABR peak latencies has often been reported in the literature. There have also been a few reports of prolonged VEMP peak latencies. This article reports prolongation of only VEMP peak latencies (in both cervical and ocular recordings). The youngest sibling had prolongation of VEMP latencies, with ABR peak latencies being normal. The assumption we put forth that CMT4F may affect the vestibular pathway first requires to be tested on a larger sample and by longitudinally studying the individuals with disease condition.