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Sturge Weber syndrome

Written2004-08Kristin Thomas-Sohl, Anne Comi
Johns Hopkins, Kennedy Krieger Institute Sturge-Weber Syndrome Center, 123 Jefferson Bldg. 600 N. Wolfe Street, Baltimore, MD 21287, USA

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Identity

Other namesEncephalotrigeminal angiomatosis
Angio-encephalo-cutaneous syndrome
Atlas_Id 10074
Genes implicated inGNAQ  
Inheritance Sporadic, equal frequency in the sexes

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.
  •  
    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.
  • Other findings

    Note Microarray and reverse transcriptase-polymerase chain reaction data found an increase in fibronectin expression in fibroblasts derived from the port-wine stains of SWS subjects compared with fibroblasts from the normal skin of the same subjects. This finding suggests the presence of a somatic mutation affecting the port wine stain tissue.

    Genes involved and Proteins

    Mutations
    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.

  • Bibliography

    Sturge-Weber Syndrome.
    Comi AM
    MedLink Neurology..
     
    Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue.
    Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J
    Pediatric research. 2003 ; 53 (5) : 762-769.
    PMID 12621118
     
    Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.
    Happle R
    Journal of the American Academy of Dermatology. 1987 ; 16 (4) : 899-906.
    PMID 3033033
     
    Sturge-Weber syndrome: a review.
    Thomas-Sohl KA, Vaslow DF, Maria BL
    Pediatric neurology. 2004 ; 30 (5) : 303-310.
    PMID 15165630
     
    Sturge-Weber Syndrome.
    ThomasSohl KA, Maria BL
    The..
     

    Citation

    This paper should be referenced as such :
    Thomas-Sohl, K ; Comi, A
    Sturge Weber syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):340-342.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/SturgeWeberID10074.html


    External links

    OMIM185300
    OrphanetSturge-Weber syndrome
    MeSHD013341  
    MedGenD013341  
    UMLSC0038505  
    ICD-10Q85.8  
    Other databaseThe Johns Hopkins-Kennedy Krieger Institute Sturge-Weber Syndrome Center
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed


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    indexed on : Tue Sep 27 16:12:24 CEST 2016


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