IEM represent an important and potentially treatable cause of pediatric stroke, with EEG patterns and specific etiology significantly associated with short-term functional outcomes.
Mitochondrial disorders and homocystinuria were the leading etiologies of IEM-related pediatric stroke in this cohort.
Focal neurological deficits and encephalopathy were the most frequent clinical presentations of IEM-related pediatric stroke.
MRI demonstrated heterogeneous patterns, most commonly focal ischemic lesions and brainstem-striatal involvement.
EEG patterns were significantly associated with short-term functional outcomes at 3 months.
Short-term functional outcomes varied significantly by IEM etiology.
Management of IEM-related pediatric stroke included mitochondrial cocktails, vitamin therapy, and targeted metabolic treatments.
This research suggests that certain inherited metabolic disorders — conditions where the body cannot properly process specific substances due to enzyme deficiencies — are an important and potentially treatable cause of stroke in children. Researchers followed 44 children (average age 4.6 years) from hospitals in Pakistan and Oman who had strokes linked to these metabolic conditions. The most common underlying conditions were mitochondrial disorders (problems with the cell's energy-producing structures) and homocystinuria (a disorder affecting amino acid processing). Children typically presented with weakness or paralysis on one side of the body and altered consciousness. The study found that two types of tests — brain MRI scans and EEG (brainwave) recordings — provided important clues about which children would recover better. Children whose EEGs showed generalized abnormal electrical activity tended to have worse outcomes at three months, while those with normal EEGs or only localized abnormalities tended to recover better. The specific underlying metabolic disorder also mattered: children with homocystinuria or mitochondrial complex I deficiency had better recoveries, while those with Leigh disease or glutaric aciduria had worse outcomes. This research highlights that when a child has a stroke, doctors should consider inherited metabolic disorders as a possible cause — especially in communities where related individuals have children together, which increases the risk of these inherited conditions. Early identification of the specific metabolic disorder matters because targeted treatments (such as specific vitamins, dietary modifications, or metabolic supplements) may improve recovery. The study suggests that EEG findings and the specific diagnosis can help doctors counsel families about expected outcomes in the first few months after stroke.
Alvi J, Wasim A, Ahdi S, Sultan T, Zia-Ur-Rehman M, Al-Thihli K, et al.. (2026). Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes.. Frontiers in neurology. https://doi.org/10.3389/fneur.2026.1889684