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Down but not out.

James D Kim1, Charlene Crockett, Orlando Diaz

  • 1Department of Ophthalmology, The University of Texas Medical Branch, Galveston, Texas.

Survey of Ophthalmology
|March 5, 2013
PubMed
Summary
This summary is machine-generated.

A young man with Down syndrome experienced severe headaches and vision loss due to a rare dural arteriovenous fistula. Endovascular embolization successfully treated the condition, resolving his symptoms.

Keywords:
Onyx embolizationcerebral venous sinus thrombosisdural arteriovenous malformationintracranial hypertensionpapilledema

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Area of Science:

  • Neurology
  • Vascular Surgery
  • Radiology

Background:

  • Down syndrome is associated with an increased risk of certain vascular abnormalities.
  • Dural arteriovenous fistulas (dAVFs) are abnormal connections between dura mater arteries and venous sinuses.
  • Cerebral venous sinus thrombosis can present with symptoms mimicking intracranial hypertension.

Observation:

  • A 20-year-old Hispanic male with Down syndrome presented with headache, decreased vision, and bilateral optic disk edema.
  • Magnetic resonance imaging revealed an empty sella and thrombosis of the left transverse and sigmoid sinuses.
  • Catheter angiography confirmed a dural arteriovenous fistula in the affected sinuses.

Findings:

  • Endovascular embolization using Onyx was performed to treat the dural arteriovenous fistula.
  • The procedure resulted in complete angiographic obliteration of the fistula.
  • The patient experienced resolution of his headache, vision changes, and optic disk edema.

Implications:

  • This case highlights a rare presentation of dural arteriovenous fistula in a patient with Down syndrome.
  • Endovascular embolization is an effective treatment for dural arteriovenous fistulas causing significant neurological symptoms.
  • Prompt diagnosis and intervention are crucial for favorable outcomes in complex vascular lesions.