The progress of adrenoleukodystrophy as revealed by auditory brainstem evoked responses and brainstem histology

Arch Otorhinolaryngol. 1980;228(1):17-27. doi: 10.1007/BF00455890.


Serial studies of auditory brainstem evoked responses (ABR) and slow vertex responses (SVR) were obtained during the progress of adrenoleukodystrophy in a 6-year-old boy. This child was normal until 5 years of age. His illness began with a gait disturbance, dysarthria, and hearing difficulty. Later, spastic paralysis, serious deafness, and blindness appeared. He died of respiratory failure 2 years after the onset. The ABR was normal at onset but changed to an abnormal pattern. Initially, there was lengthening of the wave V-I interpeak interval. This was followed by the disappearance of the later components as his general condition deteriorated. At the terminal stage, only a prolonged wave I was recordable. The postmortem pathology revealed demyelination of auditory nerves and remarkable neuronal loss in the auditory pathways of the brainstem; in addition, there was a variety of extensive degeneration throughout the cerebrum, in particular the complete degeneration of the white matter with secondarily occurring ganglionic cell changes. These date suggest that degeneration of the brainstem from rostral to caudal levels occurred.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Diseases / physiopathology
  • Auditory Threshold
  • Brain Stem / pathology
  • Brain Stem / physiopathology*
  • Child
  • Demyelinating Diseases / pathology
  • Demyelinating Diseases / physiopathology*
  • Evoked Potentials, Auditory
  • Humans
  • Male
  • Nerve Degeneration
  • Vestibulocochlear Nerve / pathology