Introduction: Brown-Vialetto-van Laere syndrome is a rare genetic neurological disease whose onset of symptoms varies from infancy to the third decade of life.It is common the existence of consanguinity between parents. Usually, there is motor neuron lesion and involvement of cranial motor nerves. The symptoms most commonly reported in the literature are generalized muscle weakness, hypotonia, progressive hearing loss, respiratory failure, hampered swallowing and dysarthrophonia. Case description: RCB, 24-years-old male, child of non-consanguineous parents, reported dyspnea, tachycardia, weakness and hearing loss since age 12. He has bilateral sensorineural hearing loss of retrocochlear type, tremor in the upper limbs and loss of muscle strength. He has a sister with hearing loss, the father reported  hypertension and diabetes mellitus, the mother is deceased (unknown cause). No similar cases have been identified in the family. Results: Clinical examination revealed the presence of fasciculations, muscle weakness, hyporeflexia, hipomimics, absence of gag reflex, flaccid dysarthrophonia, and breathing difficulties. EMG/evoked potential showed signs of chronic denervation in distal muscles. Genetic testing confirmed the diagnosis. Conclusion/discussion: Despite having very peculiar characteristics, to define the diagnosis of this syndrome, it is necessary to perform differential diagnosis with other neurological disorders in which there is involvement of cranial nerves, or where there is evidence of lower motor neuron lesion.