ArticleInternational medical case reports journal2013
Magnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects.
Article in International medical case reports journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- Article
- Long-term neurodevelopmental outcomes following liver transplantation for metabolic disease-a single centre experience.Journal of inherited metabolic disease · 2025Article
- 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
- Citrullinemia, a rare cause of recurring encephalopathy.Medical journal, Armed Forces India · 2022Article
- ClinicalNeuroradiology · 2022Review
- Neuromonitoring in Rare Disorders of Metabolism.The Yale journal of biology and medicine · 2021Review
- 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
- Biochemical markers and neuropsychological functioning in distal urea cycle disorders.Journal of inherited metabolic disease · 2018Article
- Acute pediatric hyperammonemia: current diagnosis and management strategies.Hepatic medicine : evidence and research · 2018Review
- Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Neuroradiology · 2015Review
- The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.Child neurology openArticle
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The urea-cycle functions to facilitate ammonia excretion, a disruption of which results in the accumulation of toxic metabolites. The neurological outcome of neonatal-onset urea-cycle defects (UCDs) is poor, and there are no good predictors of prognosis beyond ammonia levels at presentation. The role of neuroimaging in the prognosis of neonatal-onset UCDs is unclear. We describe the magnetic resonance imaging (MRI) findings of two patients with neonatal-onset UCDs (argininosuccinic aciduria and citrullinemia) at presentation and at 2-year follow-up, and present a review of the literature on neuroimaging in this age-group. We observed two potentially significant distinct patterns of cerebral involvement on MRI: (1) a central and focal pattern of involvement limited to the basal ganglia, perirolandic regions, and internal capsule; and (2) diffuse involvement of the cerebral cortex, internal capsule, basal ganglia, and variably thalami and brain stem. Patients with more diffuse findings tended to have higher serum glutamine peaks and worse neurological outcomes, while those with central involvement, aggressive acute management, and early liver transplantation tended to have better outcomes. We propose that MRI imaging of the brain may have prognostic value following presentation with neonatal UCDs, particularly in identifying patients at risk for poor outcome. The role and timing of follow-up neuroimaging is currently unclear. Further collaborative studies are necessary to evaluate whether patterns of MRI findings vary with specific UCD subtypes, and are predictive of clinical outcomes in neonatal UCDs.
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