{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T05:38:45Z","timestamp":1782970725268,"version":"3.54.5"},"reference-count":19,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2014,12,22]],"date-time":"2014-12-22T00:00:00Z","timestamp":1419206400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:p>Aicardi-Gouti\u00e8res 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-Gouti\u00e8res 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-Gouti\u00e8res 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-Gouti\u00e8res syndrome correctly classified with a sensitivity of 90.9% and specificity of 96.9%. We identify a panel of MRI features predictive of Aicardi-Gouti\u00e8res syndrome in young patients that would differentiate it from other leukoencephalopathies.<\/jats:p>","DOI":"10.1177\/0883073814562252","type":"journal-article","created":{"date-parts":[[2014,12,23]],"date-time":"2014-12-23T00:19:01Z","timestamp":1419293941000},"page":"1343-1348","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":40,"title":["Early-Onset Aicardi-Gouti\u00e8res Syndrome"],"prefix":"10.1177","volume":"30","author":[{"given":"Adeline","family":"Vanderver","sequence":"first","affiliation":[{"name":"Center for Genetic Medicine Research, Children\u2019s National Health System Washington, DC, USA"},{"name":"Department of Neurology, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgan","family":"Prust","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Harvard University, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadja","family":"Kadom","sequence":"additional","affiliation":[{"name":"Department of Radiology, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Demarest","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanick J.","family":"Crow","sequence":"additional","affiliation":[{"name":"Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom"},{"name":"Department of Genetics, INSERM U781, Universit\u00e9 Paris Descartes- Sorbonne Paris Cit\u00e9, Institut Imagine, H\u00f4pital Necker Enfants Malades (AP-HP), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Helman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Orcesi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, C. 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