Infantile and juvenile presentations of Alexander's disease: a report of two cases

Acta Neurol Scand. 1999 Mar;99(3):158-65. doi: 10.1111/j.1600-0404.1999.tb07338.x.

Abstract

We describe 2 new cases of Alexander's disease, the first to be reported in Belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examination showed widespread myelin loss with Rosenthal fibers (RFs) accumulation throughout the neuraxis. She was the third of heterozygotic twins, the 2 others having developed normally and being alive at age 5 years. The second patient developed at age 10 years and over a decade spastic paraparesis, palatal myoclonus, nystagmus, thoracic hyperkyphosis and thoraco-lumbar scoliosis with radiological findings of bilateral anterior leukoencephalopathy. Brain stereotactic biopsy at age 16 years demonstrated numerous RFs. With these 2 cases, we review the literature on the various clinico-pathological conditions reported as Alexander's disease. We discuss the nosology of this entity and the pathogeny of RFs formation and dysmyelination. Clues to the diagnosis of this encephalopathy in the living patient are briefly described.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Astrocytes / pathology*
  • Brain / pathology*
  • Brain Diseases / pathology*
  • Child
  • Child, Preschool
  • Disease Progression
  • Female
  • Frontal Lobe / pathology
  • Humans
  • Infant
  • Male
  • Neurodegenerative Diseases / pathology*