Van der Knaap's vacuolating leukoencephalopathy: two additional cases

Eur J Paediatr Neurol. 1999;3(2):83-6. doi: 10.1053/ejpn.1999.0187.

Abstract

We present two new cases with infantile-onset megalencephaly and a characteristic magnetic resonance imaging (MRI) pattern including severe white-matter abnormalities and subcortical cysts. In one of the patients MRI at the early age of 9 months showed pronounced white matter swelling. In another patient the swelling of white matter was less pronounced at 12 years of age.

Publication types

  • Case Reports

MeSH terms

  • Brain Edema / diagnosis*
  • Brain Edema / genetics
  • Brain Edema / pathology
  • Canavan Disease / diagnosis*
  • Canavan Disease / genetics
  • Canavan Disease / pathology
  • Cerebral Cortex / pathology
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Cysts / diagnosis*
  • Cysts / genetics
  • Cysts / pathology
  • Follow-Up Studies
  • Genes, Recessive
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Tomography, X-Ray Computed
  • Vacuoles* / pathology