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Intracranial hypertension in 2 children with marfan syndrome

Yvonne Hilhorst-Hofstee1, Lucia J M Kroft, Gerard Pals

  • 1Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. hilhorst@lumc.nl

Journal of Child Neurology
|March 21, 2008
PubMed

Insights

Two children with Marfan syndrome experienced recurrent intracranial hypertension, a condition previously unreported in this genetic disorder. Symptoms like headache and nausea resolved after cerebrospinal fluid pressure was reduced via lumbar puncture.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue.
  • Intracranial hypotension has been previously associated with severe headaches in Marfan syndrome.

Observation:

  • Two unrelated children with Marfan syndrome presented with recurrent intracranial hypertension.
  • Symptoms included headache, nausea, vomiting, and papilledema in one child.
  • Increased cerebrospinal fluid pressure was confirmed in both patients.

Findings:

  • The children's symptoms resolved after lumbar puncture, indicating relief from elevated intracranial pressure.
  • This is the first documented report of intracranial hypertension in patients with Marfan syndrome.

Implications:

  • Highlights a novel neurological complication of Marfan syndrome.
  • Suggests the need for monitoring intracranial pressure in Marfan syndrome patients presenting with relevant symptoms.
  • Expands understanding of the diverse clinical manifestations of Marfan syndrome.

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