Late-onset Brown-Vialetto-Van Laere Syndrome with Electrophysiological Findings

Brown-Vialetto-Van Laere syndrome (BVVLS), a rare neurological disorder, can cause sensorineural hearing loss, bulbar palsy, and breathing problems at any age. Facial weakness, slurred speech, and neck, shoulder, and limb weaknesses are its other features. The prevalence of BVVLS is estimated to be less than 1 in 1,000,000. There are autosomal recessive cases in about half of the familial cases, while there are also sporadic cases. For diagnosis, the clinical presentation is assessed and many tests, such as cerebrospinal fluid analysis, muscle biopsy, brain magnetic resonance imaging, and neurophysiological examinations are also performed. In this report, we discuss the first instance of a 47-year-old male patient from North Cyprus who had sensorineural hearing loss and lower cranial nerve involvement along with electrophysiological abnormalities.