Pediatric Radiology

, Volume 42, Issue 4, pp 455–462

Urea cycle disorders: brain MRI and neurological outcome

  • William R. Bireley
  • Johan L. K. Van Hove
  • Renata C. Gallagher
  • Laura Z. Fenton
Original Article

DOI: 10.1007/s00247-011-2253-6

Cite this article as:
Bireley, W.R., Van Hove, J.L.K., Gallagher, R.C. et al. Pediatr Radiol (2012) 42: 455. doi:10.1007/s00247-011-2253-6



Urea cycle disorders encompass several enzyme deficiencies that can result in cerebral damage, with a wide clinical spectrum from asymptomatic to severe.


The goal of this study was to correlate brain MRI abnormalities in urea cycle disorders with clinical neurological sequelae to evaluate whether MRI abnormalities can assist in guiding difficult treatment decisions.

Materials and methods

We performed a retrospective chart review of patients with urea cycle disorders and symptomatic hyperammonemia. Brain MRI images were reviewed for abnormalities that correlated with severity of clinical neurological sequelae.


Our case series comprises six urea cycle disorder patients, five with ornithine transcarbamylase deficiency and one with citrullinemia type 1. The observed trend in distribution of brain MRI abnormalities as the severity of neurological sequelae increased was the peri-insular region first, extending into the frontal, parietal, temporal and, finally, the occipital lobes. There was thalamic restricted diffusion in three children with prolonged hyperammonemia. Prior to death, this site is typically reported to be spared in urea cycle disorders.


The pattern and extent of brain MRI abnormalities correlate with clinical neurological outcome in our case series. This suggests that brain MRI abnormalities may assist in determining prognosis and helping clinicians with subsequent treatment decisions.


Urea cycle disorder Ornithine transcarbamylase Outcome Citrullinemia Children 



Ornithine transcarbamylase deficiency


Citrullinemia type 1

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • William R. Bireley
    • 1
  • Johan L. K. Van Hove
    • 2
  • Renata C. Gallagher
    • 3
  • Laura Z. Fenton
    • 4
  1. 1.Department of RadiologyUniversity of ColoradoAuroraUSA
  2. 2.Department of Genetics and Inherited Metabolic DiseasesUniversity of ColoradoAuroraUSA
  3. 3.Department of Genetics and Inherited Metabolic DiseasesChildren’s Hospital ColoradoAuroraUSA
  4. 4.Department of Pediatric RadiologyChildren’s Hospital ColoradoAuroraUSA

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