Sturge Weber syndrome

2004-08-01   Kristin Thomas-Sohl  , Anne Comi  

Johns Hopkins, Kennedy Krieger Institute Sturge-Weber Syndrome Center, 123 Jefferson Bldg. 600 N. Wolfe Street, Baltimore, MD 21287, USA

Identity

Name

Sturge Weber syndrome

Alias

Encephalotrigeminal angiomatosis , Angio-encephalo-cutaneous syndrome

Inheritance

Sporadic, equal frequency in the sexes

Omim

185300

Mesh

D013341

Orphanet

3205 Sturge-Weber syndrome

Umls

C0038505

Clinics

Phenotype and clinics

  • Sturge Weber Syndrome is a congenital condition characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and parietal lobes. The anomaly can affect both cerebral hemispheres.
  • An ipsilateral facial cutaneous capillary vascular malformation usually affects the upper face in the V1 distribution of the trigeminal nerve.
  • Other findings include glaucoma, buphthalmos, enlargement of the choriod plexus and seizures.
  • Hemiparesis, hemiatrophy, hemianopia and strokelike events may occur contralateral to the cortical abnormality.
  • Venous stasis results in ischemia underlying the leptomeningeal angiomatosis leading to calcification and laminar cortical necrosis.
    • Atlas Image
  • Skull x-ray film may show classic \"tram-line\" or \"tram-track\" calcifications.
  • CT scan may show brain atrophy, calcification and ipsilateral choroid plexus enlargement.
  • MRI with gadolinium enhancement shows leptomeningeal angioma.
  • SPECT demonstrates decreased cortical perfusion.
  • PET demonstrates hypometabolism in areas that correspond to decreased perfusion.
  • EEG show electromagnetic changes in areas corresponding to the leptomeningeal angiomatosis.

    • Neoplastic risk

  • For any infant with a facial port-wine stain, the risk of Sturge-Weber syndrome with associated angiomatosis of the leptomeninges or vessels of the eye is approximately 10%. The risk increases to 25% when the entire side of the face is involved and 33% when both sides of the face are affected by port-wine stain.
  • Bony and soft tissue hypertrophy can develop with structures underlying the port-wine stain.
  • Reports exist of tumors found in association with Sturge-Weber syndrome; however it is unclear whether Sturge-Weber syndrome is associated with an increased risk of other neoplasms.

    • Treatment

  • Treatment is symptomatic and focuses on seizure control with antiepileptics or surgery, symptomatic and prophylactic migraine management, glaucoma treatment to reduce intraocular pressure and laser therapy for facial cutaneous vascular malformation.
  • Anecdotal aspirin use is used when children have strokelike episodes.

    • Evolution

  • 75-90% of children with SWS develop partial seizures by 3 years of age.
  • 50-75% of children have developmental delay or mental retardation.
  • Possible complications include status epilepticus, prolonged strokelike episodes, hearing disorder, intractable headaches.
  • Glaucoma develops in 30-70% of individuals, and this along with visual field cuts can result in vision loss.
  • Neurologic deterioration in SWS is likely secondary to impaired blood flow to the brain and is worsened by seizures.

    • Prognosis

  • The prognosis for SWS patients is highly variable. Some children are minimally affected, if at all. Others have early onset seizures, numerous strokelike episodes and neurologic deterioration with hemiparesis and mental retardation.
  • Life expectancy is thought to be normal.

    • Cytogenetics

    Note

  • No consistent cytogenetic abnormalities have been found in association with Sturge-Weber syndrome.
  • One study found chromosomal abnormalities in 2 cultures derived from affected tissue compared to cultures from unaffected tissue of the same 2 individuals suggesting the presence of somatic mutation or chromosomal instability.

    • Genes involved and Proteins

    Somatic

  • Somatic mutation has been suggested by Happle and others to have a role in Sturge-Weber syndrome because of its sporadic occurrence and unilateral localized distribution.
  • No prenatal or environmental risk factors have been identified.
  • A putative mutation has not yet been identified.

    • To be noted

    Databases

    http:\/\/www.neuro.jhmi.edu\/HopkinsSWSCenter\/contact.htm\/ The Johns Hopkins-Kennedy Krieger Institute Sturge-Weber Syndrome Center

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    126211182003Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue.Comi AM et al
    30330331987Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.Happle R et al
    151656302004Sturge-Weber syndrome: a review.Thomas-Sohl KA et al