Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

Ann Neurol. 2000 Jan;47(1):113-7.

Abstract

The phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule L1 (L1CAM) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. Using diffusion-weighted imaging (DWI), we failed to demonstrate anisotropy in the corticospinal tracts of the basis pontis in 4 affected boys with L1CAM mutations. The DWI findings correlated with the neuropathological findings in a fifth patient. DWI may be a useful technique to screen for boys with L1CAM mutations.

MeSH terms

  • Child
  • Child, Preschool
  • Humans
  • Hydrocephalus / genetics*
  • Hydrocephalus / pathology*
  • Infant
  • Leukocyte L1 Antigen Complex
  • Magnetic Resonance Imaging / methods*
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation / genetics
  • Neural Cell Adhesion Molecules / genetics*
  • Pons / pathology

Substances

  • Leukocyte L1 Antigen Complex
  • Membrane Glycoproteins
  • Neural Cell Adhesion Molecules