{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:57:05Z","timestamp":1777802225660,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2011,11,22]],"date-time":"2011-11-22T00:00:00Z","timestamp":1321920000000},"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":[[2012,5]]},"abstract":"<jats:p>Mitochondrial diseases are increasingly being recognized as causes of encephalopathy and intractable epilepsy. There is no gold-standard test for diagnosing mitochondrial disease, and the current diagnosis relies on establishing a consistent pattern of evidence from clinical data, neuroimaging, tissue biopsy, and biochemical, genetic, and other investigations. Experience in the diagnosis and treatment of patients with certain forms of mitochondrial disease, such as Alpers syndrome, is largely gained from case reports or small case series. The authors describe a case of Alpers syndrome due to POLG1 mutations, including serial neuroimaging and pathological investigations, to illustrate two main points: (1) Unique characteristics evident on serial diffusion-weighted imaging can be a valuable indicator of Alpers syndrome; and (2) abnormal lipid metabolism can be present in Alpers syndrome, which may need to be considered when using a ketogenic diet.<\/jats:p>","DOI":"10.1177\/0883073811423973","type":"journal-article","created":{"date-parts":[[2011,11,23]],"date-time":"2011-11-23T20:16:15Z","timestamp":1322079375000},"page":"636-640","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Alpers Syndrome"],"prefix":"10.1177","volume":"27","author":[{"given":"Aneal","family":"Khan","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Medical Genetics, University of Calgary, and Alberta Children\u2019s Hospital, Calgary, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Trevenen","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine and Pediatrics, University of Calgary, and Calgary Laboratory Services, Alberta Children\u2019s Hospital, Calgary, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing-Chang","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Radiology, Alberta Children\u2019s Hospital, and University of Calgary, Calgary, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harvey B.","family":"Sarnat","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Pathology (Neuropathology), and Clinical Neurosciences, University of Calgary, and Alberta Children\u2019s Hospital, Calgary, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Payne","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Neurosciences, University of Calgary, and Division of Neurology, Alberta Children\u2019s Hospital, Calgary, Alberta, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Kirton","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Neurosciences, University of Calgary, and Division of Neurology, Alberta Children\u2019s Hospital, Calgary, Alberta, 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Metabolism"],"short-title":[],"issued":{"date-parts":[[2011,11,22]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1177\/0883073811423973"],"URL":"https:\/\/doi.org\/10.1177\/0883073811423973","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,22]]}}}