{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:21:47Z","timestamp":1747149707605,"version":"3.40.5"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T00:00:00Z","timestamp":1605830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration of possible medical causes including coagulation, hematologic, metabolic and other genetic disorders, as well as witnessed and unwitnessed accidental injuries.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>We present a 7\u2010month\u2010old male with spells and incidental findings of bilateral subdural hematomas, retinal hemorrhages, and secondary macrocephaly, leading to investigation for NAT. Biochemical analysis showed excretion of a large amount of D\u20102\u2010hydroxyglutaric in urine consistent with a biochemical diagnosis of D\u20102\u2010hydroxyglutaric aciduria, a rare neurometabolic disorder characterized by developmental delay, epilepsy, hypotonia, and psychomotor retardation. None of these symptoms were present in our patient at the time of diagnosis. Molecular genetic testing revealed a pathogenic splice site variant (c.685\u20102A&gt;G) and a variant of uncertain significance (c.1256G&gt;T) with evidence of pathogenicity in the <jats:italic>D2HGDH<\/jats:italic> gene, consistent with a molecular diagnosis of D\u20102\u2010hydroxyglutaric aciduria type I (OMIM #600721).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Since several metabolic disorders, including D\u20102\u2010hydroxyglutaric aciduria type I, can present solely with symptoms suggestive of NAT (subdural and retinal hemorrhages), an early metabolic evaluation by urine organic acid analysis should be included in clinical protocols evaluating NAT. A methodical and nonjudgmental approach coordinated between pediatricians and metabolic specialists is also necessary to ensure that rare genetic conditions are not overlooked to prevent devastating social, legal, and financial consequences of suspected child abuse.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jmd2.12188","type":"journal-article","created":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T06:43:18Z","timestamp":1605940998000},"page":"21-28","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D\u20102\u2010hydroxyglutaric aciduria"],"prefix":"10.1002","volume":"58","author":[{"given":"Ester","family":"Perales\u2010Clemente","sequence":"first","affiliation":[{"name":"Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela L.","family":"Hewitt","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"April L.","family":"Studinski","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan\u2010Mendelt","family":"Tillema","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J.","family":"Laxen","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota 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