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Urea cycle disorders: brain MRI and neurological outcome

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Abstract

Background

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

Objective

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.

Results

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.

Conclusion

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.

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Abbreviations

OTC:

Ornithine transcarbamylase deficiency

CIT 1:

Citrullinemia type 1

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Authors and Affiliations

  1. Department of Radiology, University of Colorado, 12631 E. 17th Ave., MS 8200, Aurora, CO, 80045, USA

    William R. Bireley

  2. Department of Genetics and Inherited Metabolic Diseases, University of Colorado, Aurora, CO, USA

    Johan L. K. Van Hove

  3. Department of Genetics and Inherited Metabolic Diseases, Children’s Hospital Colorado, Aurora, CO, USA

    Renata C. Gallagher

  4. Department of Pediatric Radiology, Children’s Hospital Colorado, Aurora, CO, USA

    Laura Z. Fenton

Authors
  1. William R. Bireley
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  2. Johan L. K. Van Hove
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  3. Renata C. Gallagher
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  4. Laura Z. Fenton
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Correspondence to William R. Bireley.

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Bireley, W.R., Van Hove, J.L.K., Gallagher, R.C. et al. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol 42, 455–462 (2012). https://doi.org/10.1007/s00247-011-2253-6

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  • DOI: https://doi.org/10.1007/s00247-011-2253-6

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