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Diseases associated with <jats:italic>PARS2<\/jats:italic> primarily affect the central nervous system, causing early infantile developmental epileptic encephalopathies (EIDEE; DEE75; MIM #618437) with infantile\u2010onset neurodegeneration. Dilated cardiomyopathy has also been reported in the affected individuals. About 10 individuals to date have been described with pathogenic biallelic variants in <jats:italic>PARS2<\/jats:italic>. While many of the reported individuals succumbed to the disease in the first two decades of life, autopsy findings have not yet been reported. Here, we describe neuropathological findings in a deceased male with evidence of intracranial calcifications in the basal ganglia, thalamus, cerebellum, and white matter, similar to Aicardi\u2010Gouti\u00e8res syndrome. This report describes detailed autopsy findings in a child with <jats:italic>PARS2<\/jats:italic>\u2010related mitochondrial disease and provides plausible evidence that intracranial calcifications may be a previously unrecognized feature of this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.63589","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T11:19:05Z","timestamp":1710242345000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Intracranial calcifications simulating <scp>Aicardi\u2010Gouti\u00e8res<\/scp> syndrome in <scp><i>PARS2<\/i><\/scp>\u2010related mitochondrial disease"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5024-7293","authenticated-orcid":false,"given":"Amanda","family":"Gerard","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4816-8502","authenticated-orcid":false,"given":"Elizabeth","family":"Mizerik","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie A.","family":"Mohila","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Immunology Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Pathology Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"AlAwami","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital &amp; Research Center  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill V.","family":"Hunter","sequence":"additional","affiliation":[{"name":"Department of Radiology, Baylor College of Medicine  Houston Texas USA"},{"name":"E.B. 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