{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T06:13:44Z","timestamp":1788416024503,"version":"build-2803163510"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:00Z","timestamp":1788393600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Pediatric stroke has a broad etiological spectrum, with inborn errors of metabolism (IEM) increasingly recognized as an important and potentially treatable cause. This study aimed to characterize the clinical, radiological, and electroencephalographic features of IEM-related pediatric stroke and to evaluate short-term functional outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This prospective cohort study was conducted at The Children\u2019s Hospital Lahore, Pakistan, and Sultan Qaboos University Hospital, Muscat, Oman (January 2024\u2013December 2025). Children with confirmed stroke secondary to IEM were enrolled. Functional outcome was assessed at 3\u202fmonths using the modified Rankin Scale (mRS), with scores 0\u20133 defined as favorable and 4\u20136 as unfavorable.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Forty-four patients were included (59.1% male), with a mean age of 4.6\u202f\u00b1\u202f4.2\u202fyears. Focal neurological deficits and encephalopathy were the most frequent presentations. Mitochondrial disorders and homocystinuria were the leading etiologies. MRI demonstrated heterogeneous patterns, most commonly focal ischemic lesions and brainstem\u2013striatal involvement. Management included mitochondrial cocktails, vitamin therapy, and targeted metabolic treatments. Poorer outcomes (mRS 4\u20136) were associated with generalized epileptiform discharges with diffuse slowing on EEG, whereas favorable outcomes correlated with focal epileptiform discharges or normal EEG findings (\n                      <jats:italic>p<\/jats:italic>\n                      \u202f=\u202f0.00018). Outcomes also varied by etiology, with homocystinuria and mitochondrial complex I deficiency associated with better recovery and Leigh disease and glutaric aciduria with worse prognosis (\n                      <jats:italic>p<\/jats:italic>\n                      \u202f=\u202f0.041).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>IEM represent an important and potentially treatable cause of pediatric stroke, particularly in populations with high consanguinity. Recognition of characteristic clinical features, distinctive MRI patterns, and supportive EEG findings can facilitate early diagnosis. Prompt metabolic and genetic evaluation is essential to guide targeted therapy and improve outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fneur.2026.1889684","type":"journal-article","created":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T05:23:32Z","timestamp":1788413012000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes"],"prefix":"10.3389","volume":"17","author":[{"given":"Javeria Raza","family":"Alvi","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, University of Child Health Sciences, The Children\u2019s Hospital","place":["Lahore, Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Areeba","family":"Wasim","sequence":"additional","affiliation":[{"name":"Child Health Department, Pediatric Neurology Division, Sultan Qaboos University Hospital","place":["Muscat, Oman"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saher Gul","family":"Ahdi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University of Child Health Sciences, The Children\u2019s Hospital","place":["Lahore, Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tipu","family":"Sultan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University of Child Health Sciences, The Children\u2019s Hospital","place":["Lahore, Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Zia-ur-Rehman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University of Child Health Sciences, The Children\u2019s Hospital","place":["Lahore, Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Thihli","sequence":"additional","affiliation":[{"name":"Genetics Department, Sultan Qaboos University Hospital, University Medical City","place":["Muscat, Oman"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fathiya","family":"Al Murshedi","sequence":"additional","affiliation":[{"name":"Genetics Department, Sultan Qaboos University Hospital, University Medical City","place":["Muscat, Oman"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amna","family":"Al Futaisi","sequence":"additional","affiliation":[{"name":"Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University","place":["Muscat, 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