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Ataxia and Headache in a Child: A Case of Acute Cerebellar Infarction
Kathryn M Hewett1, Brett Lorenzetti, Benjamin F Jackson
1From the Department of Pediatric Emergency Medicine, Medical University of South Carolina, SC.
Insights
A pediatric stroke case highlights acute cerebellar artery thrombosis in a young girl. Genetic analysis revealed a methylene tetrahydrofolate reductase gene mutation as the likely cause.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Pediatric ataxia and headache warrant thorough neurological evaluation.
- Cerebrovascular accidents (CVAs) in children are uncommon but serious emergencies.
Observation:
- A 4-year-old female presented with acute ataxia and occipital headache.
- Initial CT scan showed no focal neurological lesion.
- Further investigation revealed acute superior cerebellar artery thrombosis.
Findings:
- A heterozygous mutation in the methylene tetrahydrofolate reductase (MTHFR) gene was identified.
- This MTHFR mutation is the likely cause of the pediatric stroke.
Implications:
- This case underscores the importance of considering CVAs in pediatric patients with acute neurological deficits.
- Genetic testing for MTHFR mutations may be crucial in evaluating cryptogenic pediatric strokes.
- Understanding the link between MTHFR mutations and stroke aids in pediatric CVA management.
Abstract:
A 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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