Sturge-Weber syndrome

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Sturge-Weber Syndrome is a neuroectodermal or neurocutaneous syndrome.

  • Unlike other neurocutaneous syndromes, Sturge-Weber Syndrome occurs sporadically and does not have an inherited basis.
  • It is also known as Encephalotrigeminal Angiomatosis.


Incidence

Estimated at 1 per 50 000

  • Where there is a Port-wine stain, between 8% and a third will have Sturge-Weber Syndrome.


No known sexual or racial differences.


Clinical features

Sturge-Weber Syndrome is the association of a facial angioma, usually in the division of ophthalmic trigeminal nerve, and an ipsilateral leptomeningeal angioma which is usually in the parietal or occipital region of the brain.


The cutaneous angioma is known as a Port-Wine Stain or Naevus Flammeus.


Buphthalmos can be present in the ipsilateral eye leading to glaucoma.


Neurological morbidity depends on the location of the cerebral angioma, for example:

  • Seizures
  • hemiparesis / hemianopsia (which may be transient / "Stoke-like")
  • Developmental delay / learning difficulty
  • Severe headaches


Classification

The Roach Scale is used for classification:

  • Type I - facial and leptomeningeal angiomas ('Complete Sturge-Weber Syndrome')
  • Type II - Facial angioma alone (no CNS involvement) ('Incomplete Sturge-Weber Syndrome')
  • Type III - Isolated leptomeningeal angioma; usually no glaucoma. ('Incomplete Sturge-Weber Syndrome')


Aetiology

Aetiology is unclear. The vascular lesions are the result of failure of regression of the vascular plexus which develops around the cephalic neural tube between 6-9 weeks gestation. Neurological sequelae result from the effects of this tissue on surrounding brain tissue: hypoxia, ischaemia, thrombosis, infarction, etc.


Investigations

If the port-wine stain involves skin near the eye, ophthalmological assessment is essential to exclude glaucoma.


EEG to assess and possibly localise seizure activity.


CSF analysis may reveal raised protein, though to be due to microhaemorrhage.


Neuroimaging

  • Skull Xray: "Tram-track" calcification was once considered pathognomonic, though is a relatively late sign and has since been reported in Tuberous sclerosis and leukaemia.
  • Angiography may reveal lack of superficial cortical veins, though does not usually show the angioma.
  • CT may reveal cortical calcifications, associated brain atrophy, ipsilateral choroid plexus enlargement or abnormal veins.
  • MRI: Gadolinium may produce enhancement of angiomas allowing early diagnosis, though not necessarily in all cases.
  • PET (positron emission tomography): may reveal hypoperfusion in the area of a leptomeningeal angioma.


A combination of structural and functional neuroimaging is thought to be most likely to secure an early diagnosis.


Management

Management is symptomatic:

  • The Port-wine stain may be treated with laser therapy.
  • Seizure control, which may include surgery if intractable
  • Intra-ocular pressure control


References

  • Emedicine article Here


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