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[Case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency]

Naoki Yuasa1, Tatsuya Ishikawa, Kentaro Tokuoka

  • 1Department of Neurology, Tokai University Hachioji Hospital.

Rinsho Shinkeigaku = Clinical Neurology
|July 12, 2008
PubMed

Insights

Methylenetetrahydrofolate reductase deficiency (MTHFRD) can cause ischemic stroke in young children. This genetic condition, often missed by newborn screening, requires consideration in pediatric stroke cases.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Ischemic stroke in childhood is rare and often lacks a clear cause.
  • Early diagnosis and management are crucial for preventing long-term neurological deficits.

Observation:

  • A patient experienced hemiparesis at 13 months, diagnosed as acute ischemic stroke of unknown etiology.
  • At 17 years, recurrent cerebral infarctions were detected after minor head trauma.
  • Laboratory tests revealed hyperhomocysteinemia, a risk factor for stroke.

Findings:

  • Genetic analysis identified methylenetetrahydrofolate reductase deficiency (MTHFRD), specifically the valine/valine genotype.
  • MTHFRD is not typically detected through routine infantile screening for metabolic disorders.

Implications:

  • MTHFRD should be considered in the differential diagnosis of ischemic stroke in patients, especially those under two years of age.
  • This finding highlights the importance of comprehensive genetic testing in pediatric stroke evaluations.
  • Early identification of MTHFRD can lead to targeted treatment and potentially prevent future cerebrovascular events.

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