{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T13:46:30Z","timestamp":1791812790682,"version":"4.3.4"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"Suppl 3","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mitochondrial disorders are multisystem diseases associated with wide phenotypic variability and significant morbidity. Clinical manifestations include asymptomatic carrier states, cardiac conduction abnormalities, hearing loss with or without diabetes, maternally inherited diabetes and deafness, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like (MELAS) syndrome are some of the varied symptoms. A 12-year-old male patient presented with a 7-day history of refractory seizures (20\u201325 episodes daily) each lasting for 5\u201310 seconds, characterized by right-sided ocular and facial deviation for which he was evaluated, and magnetic resonance imaging revealed gyriform hyperintense signal in the left temporoparietofrontal cortex, right occipital cortex and right posterior temporal cortex, on T2-weighted\/FLAIR, appearing hypointense on T1-weighted images,with diffusion-weighted image (DWI) and low apparent diffusion coefficient values.. Ill-defined hyperintense signal noted in bilateral gray matter and juxtacortical white matter on T2W1\/FLAIR, appearing T1 hypointense without diffusion restriction on DWI, likely due to gliosis. Whole-exome sequencing (WES) using the Illumina NovaSeq 6000 platform revealed a pathogenic variant in the COQ8A gene associated with primary coenzyme Q10 deficiency. Post-WES report, the child was started on supplements as per the report, and over time, seizure episodes reduced and the patient was discharged. Primary Q10 deficiency due to COQ8A mutation can present with MELAS and refractory seizures. Recognition of mitochondrial stroke mimics and early genetic diagnosis are essential to guide metabolic therapy and outcomes.<\/jats:p>","DOI":"10.4103\/aam.aam_180_26","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T05:00:12Z","timestamp":1776402012000},"page":"S464-S467","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["COQ8A-related Primary Coenzyme Q10 Deficiency Mimicking Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Syndrome: A Pediatric Case Report and Review of Mitochondrial Mimics"],"prefix":"10.4103","volume":"25","author":[{"given":"Suram Bharath","family":"Reddy","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avinash","family":"Daru","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vineeta","family":"Pande","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiji","family":"Chalipat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pachipulusu Bala Venkata Subrrahmanya","family":"Sai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"R1-20261012","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1111\/j.1464-5491.2008.02359.x","article-title":"Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation","volume":"25","author":"Murphy","year":"2008","journal-title":"Diabet Med"},{"key":"R2-20261012","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1177\/088307389400900102","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Current concepts","volume":"9","author":"Hirano","year":"1994","journal-title":"J Child Neurol"},{"key":"R3-20261012","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.bbagen.2011.03.015","article-title":"MELAS: A 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mutation","volume":"72","author":"Whittaker","year":"2009","journal-title":"Neurology"},{"key":"R10-20261012","doi-asserted-by":"crossref","first-page":"898","DOI":"10.3174\/ajnr.A2395","article-title":"Apparent diffusion coefficients of metabolites in patients with MELAS using diffusion-weighted MR spectroscopy","volume":"32","author":"Liu","year":"2011","journal-title":"AJNR Am J Neuroradiol"},{"key":"R11-20261012","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1097\/RCT.0b013e3182811170","article-title":"Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies","volume":"37","author":"Gieraerts","year":"2013","journal-title":"J Comput Assist Tomogr"},{"key":"R12-20261012","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1177\/1352458513510224","article-title":"The chameleon of neuroinflammation: Magnetic resonance imaging characteristics of natalizumab-associated 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