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Attribution 4.0 International (CC BY 4.0)
Summary
Author:Julien Baruteau, Elisabeth Jameson, Andrew A. Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare E. Beesley, Stephanie Grunewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter H. Robinson, Lesley MacPherson, Katharine Foster,W. Kling Chong, Deborah A. Ridout, Kirsten McKay Bounford, Simon N. Waddington, Philippa B. Mills, Paul Gissen, and James E. Davison,Gene Transfer Technology Group, Institute for Women’s Health, University College London,Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust,Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London,Metabolic Medicine Department, Royal Manchester Children Hospital Foundation Trust,Metabolic Medicine Department, Birmingham Children’s Hospital NHS Foundation Trust,North East Thames Regional Genetic Services, Great Ormond Street Hospital NHS Foundation Trust,Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Metabolic Medicine Department, Evelina Children’s Hospital,Metabolic Medicine Department, St Thomas Hospital,Paediatric Metabolic Medicine, Royal Hospital for Sick Children, Neuroradiology Department, Birmingham Children’s Hospital NHS Foundation Trust, Neuroradiology Department, Great Ormond Street Hospital NHS Foundation Trust, Population, Policy and Practice Programme, UCL Institute of Child Health,West Midlands Regional Genetic Laboratory, Birmingham Women’s Hospital, Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, MRC Laboratory for Molecular Cell Biology, University College London(Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC5393288_10545_2017_22_Fig1_HTML&query=Argininosuccinic%20aciduria&it=xg&req=4&npos=1 Description:Fig1: Neuroimaging. A: Morphological brain MRI features. A, B: T2-weighted axial images showing brain matter volume loss and mild ex vacuo dilatation of ventricles (A) and high signal in bilateral caudate heads and posterior putamina (arrows). C: T2-weighted axial images with severe diffuse cerebral atrophy and ventricular dilatation. D, H: T1-weighted coronal image with right periventricular heterotopia (arrowheads). E, F: T2-weighted axial (E) and coronal (F) images with evidence of right inferior frontal lobe infarct (arrow). G: T2-weighted axial image with bilateral high signal of the peritrigonal white matter (arrow). B1H MR spectroscopy features in basal ganglia. Assessment in early-onset (n = 5), late-onset (n = 3) and control (n = 63) patients analysed using a paired t test. c1H MR spectroscopy features in white matter. Patients affected by argininosuccinic aciduria (n = 4) and controls (n = 53) analysed with one way ANOVA. Graphs represent mean ± 95% confidence interval. * p < 0.05; ** p < 0.01
