Progressive bulbar paralysis associated with neural deafness. A nosological entity

Area of Science:

• Neurology
• Pathology
• Genetics

Background:

• Progressive bulbar palsy (PBP) is a rare neurodegenerative disorder affecting motor neurons.
• Neural deafness, or hearing loss due to inner ear or auditory nerve damage, can occur in various neurological conditions.

Observation:

• A five-year-old girl presented with hearing loss and speech difficulties, later developing PBP, retinitis pigmentosa, peripheral amyotrophies, pyramidal signs, and ataxia by age 24.
• The patient died at 27, with autopsy revealing significant degenerative changes.

Findings:

• Autopsy confirmed atrophy and neuron loss with gliosis and demyelination, primarily affecting anterior horns, brainstem motor nuclei, and the eighth cranial nerve nuclei.
• Degenerative changes were also observed in the spinocerebellar and pyramidal tracts and fasciculus gracilis.

Implications:

• The findings support classifying progressive bulbar palsy with neural deafness as a distinct nosological entity.
• This case highlights the complex interplay between neurological degeneration and sensory deficits.