MRI findings in an adolescent with type I citrullinaemia

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)237-240
Number of pages4
JournalPediatric Radiology
Issue number2
Publication statusPublished - Feb 2008


  • Citrullinaemia
  • Encephalopathy
  • MRI
  • Urea cycle disorders

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology


Dive into the research topics of 'MRI findings in an adolescent with type I citrullinaemia'. Together they form a unique fingerprint.

Cite this