Neurological studies were performed in a young boy with keratitis, ichthyosis and deafness syndrome. Skin biopsy showed features of ichthyosis. Clinically and electrophysiologically, he had normal motor and sensory systems, but there was an acoustic nerve lesion and absence of tendon reflexes. Audiometry and brainstem auditory evoked potentials showed bilateral neurosensory deafness. Poor vision may not be due to an optic nerve lesion as evidenced on visual evoked potential findings, but is probably due to pronounced vascularizing keratitis of the cornea. Computer tomography scan showed mild hypoplasia of the inferior vermis and left side of the cerebellum.