Alexander disease: a case report and review of the literature

Pediatr Pathol Lab Med. 1996 Mar-Apr;16(2):327-43.

Abstract

Alexander disease (AD) is a rare progressive lethal leukodystrophy usually affecting infants and characterized by progressive failure of central myelination and accumulation of Rosenthal fibers (RFs) in astrocytes. Despite strong male predilection and infrequency of involved siblings, an autosomal recessive mode of inheritance is presumed. We report a typical case of infantile AD with imaging studies, a complete autopsy, and a critical literature review. Recent studies of AD have identified several stress proteins plus glial fibrillary protein as major constituents of RFs but have not clarified the basic defect. Advances in understanding of astrocyte function suggest an important role in the process of myelination that may be interrupted in AD. The nosology of putative juvenile-onset and adult-onset examples continues to be uncertain.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain Diseases / pathology*
  • Demyelinating Diseases / pathology*
  • Humans
  • Infant
  • Intermediate Filament Proteins / analysis
  • Male
  • Nerve Tissue Proteins / analysis
  • Protein Kinases*
  • alpha-Crystallin B Chain

Substances

  • CRYAB protein, human
  • Intermediate Filament Proteins
  • Nerve Tissue Proteins
  • alpha-Crystallin B Chain
  • Protein Kinases