• Kathryn M Hewett, Brett Lorenzetti, and Benjamin F Jackson.
• From the Department of Pediatric Emergency Medicine, Medical University of South Carolina, SC.
• Pediatr Emerg Care. 2017 Aug 1; 33 (8): 570-572.

AbstractA 4-year-old female patient presents to the pediatric emergency department with acute onset of ataxia and occipital headache. Initial investigation, including computed tomography imaging, failed to demonstrate any focal neurologic lesion. Subsequent studies, however, reveal an acute thrombosis of the superior cerebellar artery. Further work up identified the likely causative factor to be a heterozygous mutation at the methylene tetrahydrofolate reductase gene. In this case report, we will discuss the work-up of pediatric ataxia, the evaluation and management of cerebrovascular accidents in children, and the association between stroke and mutation of the methylene tetrahydrofolate reductase gene.

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