Computed tomography in neuronal ceroid lipofuscinosis

Neuroradiology. 1980;19(1):35-8. doi: 10.1007/BF00369086.

Abstract

The computed tomography (CT) findings in a verified case of neuronal ceroid lipofuscinosis (NCL) are presented. CT revealed diffuse and severe cerebral atrophy, reflected by generalized subarachnoid space enlargement and symmetric ventricular dilatation. There was no evidence of abnormalities of the white matter. The CT features in our case of NCL correspond perfectly with the neuropathologic changes of the disease mentioned in the literature. Furthermore, CT is of considerable help in differentiating between those inherited metabolic brain diseases characterized primarily by white matter involvement and those presenting predominantly with changes of grey matter.

Publication types

  • Case Reports

MeSH terms

  • Ceroid / metabolism
  • Child, Preschool
  • Humans
  • Lipidoses / diagnostic imaging*
  • Lipidoses / pathology
  • Lipofuscin / metabolism*
  • Male
  • Pigments, Biological / metabolism*
  • Sural Nerve / pathology
  • Syndrome
  • Tomography, X-Ray Computed*

Substances

  • Ceroid
  • Lipofuscin
  • Pigments, Biological