ArticlePediatric radiology2012
Urea cycle disorders: brain MRI and neurological outcome.
Article in Pediatric radiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 45 citations in OpenAlex.
- Neuroimaging of neonatal brain post therapeutic hypothermia: a practical guide to the non-pediatric neuroradiologist.Frontiers in radiology · 2026Review
- The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.Journal of inherited metabolic disease · 2024Article
- Phenotypes of undiagnosed adults with actionableHGG advances · 2023Article
- ClinicalNeuroradiology · 2022Review
- Fifteen years of urea cycle disorders brain research: Looking back, looking forward.Analytical biochemistry · 2022Review
- Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency.Cureus · 2021Article
- Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue.Frontiers in neurology · 2021Review
- Multimodal imaging in urea cycle-related neurological disease - What can imaging after hyperammonemia teach us?Translational science of rare diseases · 2020Article
- The neuroimaging findings of monocarboxylate transporter 1 deficiency.Neuroradiology · 2020Article
- Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome.Neurology. Clinical practice · 2018Article
- In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Neurochemical research · 2015Review
- Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Neuroradiology · 2015Review
- Neonatal neuroimaging findings in inborn errors of metabolism.Journal of magnetic resonance imaging : JMRI · 2013Review
- Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects.International medical case reports journal · 2013Article
- The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.Child neurology openArticle
- Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.Molecular genetics and metabolismReview
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUrea cycle disorders encompass several enzyme deficiencies that can result in cerebral damage, with a wide clinical spectrum from asymptomatic to severe.
objectiveThe 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
methodsWe 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.
resultsOur 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.
conclusionThe 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.