Chronic Facial Weakness and Deafness

By Hamzah Lateef, MD, Rozeen Badeel, MD, and Aziz Shaibani, MD

A 66-year-old Indian man reported bilateral facial weakness that started when he was 15 to 20 years old and affected both upper and lower parts of the face. Two to three years later, he developed hoarseness and was found to have bilateral vocal cord paralysis, which required a tracheostomy several years later. Chronic slowly progressive course of findings shown in the video were associated with hearing impairment. Gradually, the patient developed slurring of speech, became deaf, and was found to have atrophy and fasciculations of the tongue. He denied swallowing or chewing difficulty, diplopia, or sensory symptoms. He also denied headache or weakness in the arms or legs or bowel or bladder disturbances, as well as muscle cramps, twitching, or weakness in the arms or legs. The following test results were all negative: MRI of the brain, cervical spines, thoracic spines, and a repeat cerebrospinal fluid exam. In addition, investigations for sarcoidosis were also negative. Electromyography and nerve conduction studies revealed no evidence of neuropathy. The patient’s tongue was denervated. Blink reflexes testing confirmed bilateral facial palsy. Brain stem responses suggested central interruption of the auditory pathway. He has two healthy brothers and one son. His parents did not have evidence of a neuromuscular problem.

The most likely diagnosis is:

1. Bulbar-onset ALS

2. Spinal muscular atrophy

3. Madras motor neuron disease

4. Brown-Vialetto-Van Laere syndrome

5. Facial-onset sensorimotor neuropathy