Electrophysiologic studies in neonatal adrenoleukodystrophy

Electroencephalogr Clin Neurophysiol. 1985 Jan;60(1):7-15. doi: 10.1016/0013-4694(85)90943-5.

Abstract

Recent electrophysiologic studies have focussed attention on the X-linked adrenoleukodystrophy (ALD) and its myeloneuropathic variant. No organized studies are, however, yet available on its relatively recently described neonatal variant. We conducted electroencephalographic, electroretinographic and evoked response studies in 2 patients with neonatal ALD. In one patient, an infant, initial EEG, hypsarrhythmic in waking and somewhat periodic in sleep, showed dramatic improvement on ACTH therapy accompanied with a seizure-free status. The EEG and clinical improvement, however, were temporary. No improvement occurred following pyridoxine therapy. Her electroretinogram (ERG), visual evoked responses (VERs) and far-field short latency brain-stem auditory evoked responses were also abnormal. The latter studies probably reflected photoreceptor degeneration, optic nerve involvement, cochlear and/or auditory nerve involvement respectively in neonatal ALD. The other patient, a 3.5-year-old girl, also had an EEG characterized by a moderate- to high-amplitude slow background activity and high-amplitude multifocal, generalized or periodic paroxysmal discharges, but presence of some better formed theta frequencies in background activity precluded a hypsarrhythmic label on her EEG. Her ERGs and VERs were totally extinct but in contrast to the first patient, she had clear-cut optic atrophy and retinitis pigmentosa on ophthalmological examination.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / physiopathology*
  • Brain / physiopathology*
  • Child, Preschool
  • Diffuse Cerebral Sclerosis of Schilder / physiopathology*
  • Electroencephalography
  • Electrophysiology
  • Evoked Potentials, Visual
  • Female
  • Humans
  • Infant
  • Retina / physiopathology