A child with reading impairment and a family history of adrenoleukodystrophy

Semin Pediatr Neurol. 1999 Sep;6(3):233-6; discussion 236-7. doi: 10.1016/s1071-9091(99)80020-5.

Abstract

The clinical course of a 6-year-old boy with adrenoleukodystrophy (ALD) who underwent allogeneic stem-cell transplantation during an early clinical stage is described. Twenty-three months after transplant, he remains neurologically stable, but with moderate neurological sequelae; the serum very long chain fatty acid profile has improved, but not normalized. The indications, mechanism of action, and complications of bone marrow transplantation in ALD are discussed briefly, along with other potential therapies.

Publication types

  • Case Reports

MeSH terms

  • Acyl Coenzyme A / blood
  • Adrenoleukodystrophy / complications*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / therapy
  • Brain / pathology
  • Brain / surgery
  • Child
  • Combined Modality Therapy
  • Humans
  • Intellectual Disability / diagnosis
  • Learning Disabilities / diagnosis*
  • Learning Disabilities / etiology
  • Magnetic Resonance Imaging
  • Male
  • Reading*
  • Stem Cell Transplantation
  • Wechsler Scales
  • X Chromosome / genetics

Substances

  • Acyl Coenzyme A