title: Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.
abstract: Aicardi-Goutières syndrome is an inherited leukodystrophy with calcifying microangiopathy and abnormal central nervous system myelination. As fewer diagnostic computed tomographic (CT) scans are being performed due to increased availability of magnetic resonance imaging (MRI), there is a potential for missed diagnoses on the basis of calcifications. We review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutières syndrome and scored for a panel of radiologic predictors. Each individual predictor was tested against disease status using exact logistic regression. Features for pattern recognition of Aicardi-Goutières syndrome are temporal lobe swelling followed by atrophy with temporal horn dilatation, early global cerebral atrophy and visible calcifications, as evidenced by 94.44% of cases of Aicardi-Goutières syndrome correctly classified with a sensitivity of 90.9% and specificity of 96.9%. We identify a panel of MRI features predictive of Aicardi-Goutières syndrome in young patients that would differentiate it from other leukoencephalopathies.
authors.affiliation: Center for Genetic Medicine Research, Children's National Health System Washington, DC, USA Department of Neurology, Children's National Health System, Washington, DC, USA avanderv@childrensnational.org.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
authors.affiliation: Harvard Medical School, Harvard University, Boston, MA, USA.
authors.forename: Morgan
authors.initials: M
authors.lastname: Prust
authors.affiliation: Department of Radiology, Children's National Health System, Washington, DC, USA.
authors.forename: Nadja
authors.initials: N
authors.lastname: Kadom
authors.affiliation: Department of Neurology, Children's National Health System, Washington, DC, USA.
authors.forename: Scott
authors.initials: S
authors.lastname: Demarest
authors.affiliation: Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.affiliation: Department of Neurology, Children's National Health System, Washington, DC, USA.
authors.forename: Guy
authors.initials: G
authors.lastname: Helman
authors.affiliation: Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
authors.affiliation: Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.affiliation: Unit of Neuroradiology, Department of Radiology, San Carlo Borromeo Hospital, Milano, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Uggetti
authors.affiliation: Department of Biostatistics, Children's National Health System, Washington, DC, USA.
authors.forename: Jichuan
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Biostatistics, Children's National Health System, Washington, DC, USA.
authors.forename: Heather
authors.initials: H
authors.lastname: Gordisch-Dressman
authors.affiliation: Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.affiliation: Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.
authors.forename: John H
authors.initials: JH
authors.lastname: Livingston
mesh_terms: D017668:Age of Onset; D020274:Autoimmune Diseases of the Nervous System / Q000175:diagnosis* / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D016015:Logistic Models; D008279:Magnetic Resonance Imaging / Q000379:methods; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000473:pathology*; D009929:Organ Size; D012680:Sensitivity and Specificity
keywords: Aicardi-Goutières syndrome; leukodystrophies; pediatric neuroradiology