Extensive cortical magnetic resonance signal change in proximal urea cycle disorder

J Child Neurol. 2007 Feb;22(2):238-9. doi: 10.1177/0883073807300308.

Abstract

The authors report a 3-year 8-month-old girl presenting with episodic hyperammonemic encephalopathy probably due to a proximal urea cycle disorder. The magnetic resonance imaging (MRI) of the brain performed during the third episode revealed extensive and diffuse cerebral cortical signal changes with sparing of occipital cortex. It is believed that intracerebral accumulation of glutamine mainly in astrocytes is the major cause of the encephalopathy. This results in astrocyte swelling, brain edema, intracranial hypertension, and cerebral hypoperfusion.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases, Metabolic / complications
  • Brain Diseases, Metabolic / diagnosis*
  • Cerebral Cortex / pathology*
  • Child, Preschool
  • Female
  • Humans
  • Hyperammonemia / complications
  • Hyperammonemia / diagnosis*
  • Magnetic Resonance Imaging*