MRI findings in an adolescent with type I citrullinaemia

Pediatr Radiol. 2008 Feb;38(2):237-40. doi: 10.1007/s00247-007-0650-7. Epub 2007 Oct 23.

Abstract

Citrullinaemia is a rare inborn error of urea cycle metabolism. We describe the MRI findings in a 16-year-old boy with type I citrullinaemia during an episode of acute hyperammonaemic encephalopathy and compare them to his previous follow-up MRI studies. MRI revealed bilateral high signal intensity in the cingulate, perirolandic, parietal and temporoinsular cortex, the subcortical white matter and left thalamus. Diffusion-weighted imaging showed high signal intensity and low apparent diffusion coefficient values in the frontoparietal lobes. To our knowledge, MRI findings in an adolescent with type I citrullinaemia have not been previously reported. Since our patient's neuroradiological findings showed greater similarity to type II citrullinaemia, we think his brain injury during this acute episode was probably age-related and independent of the type of citrullinaemia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Citrullinemia / diagnosis*
  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Male