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[Sturge-Weber syndrome].

Annabel Maruani1

  • 1Service de dermatologie, hôpital Trousseau, CHRU de Tours, université François-Rabelais Tours, 37044 Tours cedex, France. annabel-maruani@wanadoo.fr

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Summary
This summary is machine-generated.

Facial port-wine stains can indicate Sturge-Weber syndrome (SWS), a rare neurocutaneous disorder. Early diagnosis via ophthalmologic and neuroimaging is crucial for affected newborns with V1 port-wine stains.

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Area of Science:

  • Vascular malformations
  • Neurocutaneous syndromes
  • Pediatric neurology

Context:

  • Facial port-wine stains are common capillary malformations.
  • Sturge-Weber syndrome (SWS) is a rare but severe neurocutaneous disorder associated with facial port-wine stains.
  • Diagnosis of SWS requires a combination of clinical presentation and neuroimaging.

Purpose:

  • To outline the diagnostic criteria and recommended investigations for Sturge-Weber syndrome (SWS) in newborns presenting with facial port-wine stains.
  • To emphasize the importance of early detection and intervention for SWS.
  • To provide guidance on the optimal timing for diagnostic imaging and ophthalmologic examinations.

Summary:

  • Sturge-Weber syndrome (SWS) is characterized by a facial port-wine stain involving the V1 trigeminal nerve, ophthalmologic abnormalities (e.g., congenital glaucoma), and neurological signs (e.g., seizures).
  • Neuroimaging, including CT-scan and MRI, is essential for diagnosing SWS by detecting ipsilateral leptomeningeal angioma, though the optimal age for this is not definitively established.
  • Extension of the port-wine stain to the upper eyelid, other trigeminal nerve territories (V2, V3), or the contralateral hemiface increases the statistical association with SWS.

Impact:

  • Early diagnosis and management of SWS can mitigate severe neurological and ophthalmologic complications.
  • Timely ophthalmologic examination in infants with V1 port-wine stains is critical for preventing vision loss.
  • Neuroimaging at 6-12 months of age (or earlier if neurological signs are present) aids in confirming SWS diagnosis and guiding treatment strategies.
  • Pulsed dye laser treatment for the facial port-wine stain should be considered concurrently with medical management.