Evidence map›Paper›PMID 42756027›Full record

ArticleFrontiers in neurology2026

Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes.

Javeria Raza Alvi, Areeba Wasim, Saher Gul Ahdi, Tipu Sultan, Muhammad Zia-Ur-Rehman, Khalid Al-Thihli, Fathiya Al Murshedi, Amna Al Futaisi

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Article in Frontiers in neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Javeria Raza AlviDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.
Areeba WasimChild Health Department, Pediatric Neurology Division, Sultan Qaboos University Hospital, Muscat, Oman.
Saher Gul AhdiDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.
Tipu SultanDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.
Muhammad Zia-Ur-RehmanDepartment of Pediatric Neurology, University of Child Health Sciences, The Children's Hospital, Lahore, Pakistan.
Khalid Al-ThihliGenetics Department, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman.
Fathiya Al MurshediGenetics Department, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman.
Amna Al FutaisiDepartment of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: 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. Methods: This prospective cohort study was conducted at The Children's Hospital Lahore, Pakistan, and Sultan Qaboos University Hospital, Muscat, Oman (January 2024-December 2025). Children with confirmed stroke secondary to IEM were enrolled. Functional outcome was assessed at 3 months using the modified Rankin Scale (mRS), with scores 0-3 defined as favorable and 4-6 as unfavorable. Results: Forty-four patients were included (59.1% male), with a mean age of 4.6 ± 4.2 years. 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-striatal involvement. Management included mitochondrial cocktails, vitamin therapy, and targeted metabolic treatments. Poorer outcomes (mRS 4-6) were associated with generalized epileptiform discharges with diffuse slowing on EEG, whereas favorable outcomes correlated with focal epileptiform discharges or normal EEG findings ( Conclusion: 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.

Indexed as

Metabolism, Inborn ErrorsStrokeChildChild, PreschoolElectroencephalographyFemaleHumansInfantMagnetic Resonance ImagingMaleNeuroimagingProspective Studiesacute neurological deficitsfunctional outcomegeneticsinherited metabolic disordersneuroimagingstroke-like episodes

Identifiers

PMID42756027
PMCPMC13581958

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