Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy

Neuroradiol J. 2015 Oct;28(5):519-22. doi: 10.1177/1971400915609335. Epub 2015 Oct 1.

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts, or Van der Knaap leukoencephalopathy, is a rare disease which is characterised by macrocephaly and neurological disorders with autosomal recessive inheritance. Magnetic resonance imaging is very helpful for determining distinctive findings and distinguishing other diseases. We present the radiological findings of two sisters (aged 6 and 10 years) diagnosed with Van der Knaap leukoencephalopathy.

Keywords: Leukoencephalopathy; Van der Knaap disease; magnetic resonance imaging.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Consanguinity
  • Cysts / diagnosis*
  • Diagnosis, Differential
  • Female
  • Hereditary Central Nervous System Demyelinating Diseases / diagnosis*
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Siblings

Supplementary concepts

  • Megalencephalic leukoencephalopathy with subcortical cysts