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Stroke associated with Barth syndrome.

Beau M Ances1, Joseph Sullivan, John B Weigele

  • 1Departments of Neuroscience and Radiology, University of California at San Diego, San Diego, CA, USA.

Journal of Child Neurology
|September 15, 2006
PubMed
Summary
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Barth syndrome, a rare genetic disorder, can lead to serious cardiovascular events like stroke. Early stroke prevention strategies may be crucial for affected individuals.

Area of Science:

  • Genetics
  • Cardiology
  • Neurology

Background:

  • Barth syndrome is a rare X-linked genetic disorder.
  • It is characterized by dilated cardiomyopathy, neutropenia, growth retardation, and skeletal myopathy.
  • Cardiovascular complications are known manifestations of Barth syndrome.

Observation:

  • A case of acute stroke in a patient with Barth syndrome is presented.
  • The stroke required intra-arterial thrombolysis for treatment.
  • This highlights a potential severe neurological complication.

Findings:

  • Barth syndrome is associated with an increased risk of stroke.
  • Cardiovascular complications in Barth syndrome can manifest as cerebrovascular events.
  • Intra-arterial thrombolysis can be a viable treatment option for stroke in these patients.

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Implications:

  • This case underscores the importance of recognizing stroke as a potential complication of Barth syndrome.
  • Proactive stroke prevention strategies, possibly including antithrombotic therapy, should be considered for patients with Barth syndrome.
  • Further research into the cardiovascular and neurological risks in Barth syndrome is warranted.