{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T05:39:14Z","timestamp":1782970754306,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Aicardi\u2013Gouti\u00e8res syndrome (<jats:styled-content style=\"fixed-case\">AGS<\/jats:styled-content>) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of <jats:styled-content style=\"fixed-case\">AGS<\/jats:styled-content> are associated with abnormal type I interferon\u2010mediated innate immune response. Most patients with <jats:styled-content style=\"fixed-case\">AGS<\/jats:styled-content> present with progressive microcephaly, spasticity, and cognitive impairment. Some, especially those with type 2 (<jats:styled-content style=\"fixed-case\">AGS<\/jats:styled-content>2), manifest milder phenotypes, reduced childhood mortality, and relative preservation of physical and cognitive abilities. In this report, we describe two siblings (sister and brother) diagnosed with <jats:styled-content style=\"fixed-case\">AGS<\/jats:styled-content>2 in their second decade, who exhibited static encephalopathy since 1 year of age with spastic quadriplegia and anarthria but preserved intellect. Both were homozygous for the common pathogenic <jats:italic><jats:styled-content style=\"fixed-case\">RNASEH<\/jats:styled-content>2B<\/jats:italic> allele (c.529G&gt;A, p.Ala177Thr). Rather than manifesting calcifications and leukoencephalopathy, both had increased iron signal in the basal ganglia. Our report broadens the clinical and imaging spectrum of <jats:styled-content style=\"fixed-case\">AGS<\/jats:styled-content>2 and emphasizes the importance of including <jats:styled-content style=\"fixed-case\">AGS<\/jats:styled-content>2 in the differential diagnosis of idiopathic spastic cerebral palsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>What this paper adds<\/jats:title><jats:p>\n<jats:list list-type=\"bullet\">\n\n<jats:list-item><jats:p>We identified two siblings (sister and brother) with atypical Aicardi\u2013Gouti\u00e8res syndrome type 2 due to <jats:italic>RNASEH2B<\/jats:italic> mutation. Manifestations included spastic quadriplegia and anarthria but preserved intellect and increased iron signal in the basal ganglia.<\/jats:p><\/jats:list-item>\n\n<jats:list-item><jats:p><jats:italic>RNASEH2B<\/jats:italic>\u2010related Aicardi\u2013Gouti\u00e8res syndrome type 2 can have present with a variable phenotype, including idiopathic spastic cerebral palsy.<\/jats:p><\/jats:list-item>\n<\/jats:list>\n<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.13509","type":"journal-article","created":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T10:22:45Z","timestamp":1501582965000},"page":"1307-1311","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Late diagnosis and atypical brain imaging of Aicardi\u2013Gouti\u00e8res syndrome: are we failing to diagnose Aicardi\u2013Gouti\u00e8res syndrome\u20102?"],"prefix":"10.1111","volume":"59","author":[{"given":"Leah","family":"Svingen","sequence":"first","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director Bethesda MD USA"},{"name":"College of Medicine University of Nebraska Medical Center Omaha NE USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell","family":"Goheen","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rena","family":"Godfrey","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Wahl","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director Bethesda MD 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