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Related Experiment Videos

Hyperhomocysteinemia--case report.

Nuno Fonseca1, Nathalie Vidal, José Santos

  • 1Serviço de Cardiologia do Hospital de São Bernardo, Setúbal.

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology
|May 29, 2003
PubMed
Summary

This case study highlights a young woman with intellectual disability and proptosis who experienced multiple strokes. Elevated homocysteinemia and homocystinuria were key findings, suggesting a link to cerebrovascular disease.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Cerebrovascular events can manifest with diverse neurological symptoms.
  • Intellectual disability and proptosis are rare presenting symptoms of metabolic disorders.

Observation:

  • A 25-year-old female patient presented with a history of recurrent cerebrovascular events.
  • The patient exhibited intellectual disability and proptosis.
  • Diagnostic investigations revealed elevated plasma homocysteine (homocysteinemia) and urinary homocysteine (homocystinuria).

Findings:

  • Homocysteinemia and homocystinuria are indicative of inborn errors of homocysteine metabolism.
  • These metabolic derangements are associated with an increased risk of thrombotic events, including cerebrovascular disease.

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  • The constellation of symptoms suggests a potential genetic basis for the patient's condition.

    • Implications:

    • Early detection of homocysteinemia/homocystinuria is crucial for managing cerebrovascular risk.
    • This case underscores the importance of considering metabolic disorders in young patients with unexplained neurological deficits.
    • Further research into the specific genetic causes and optimal treatment strategies for such cases is warranted.