Sturge–Weber syndrome

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Sturge–Weber syndrome
Sturge-Weber CT.jpg
CT scan of Sturge-Weber syndrome
Specialty Medical genetics Edit this on Wikidata

Sturge–Weber syndrome or Sturge–Weber–Krabbe disease, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). Sturge Weber Syndrome can be classified into three different types. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Normally, only one side of the brain is affected. This type is the most common. Type 2 involvement includes a facial angioma (port wine stain) with a possibility of glaucoma developing. There is no evidence of brain involvement. Symptoms can show at any time beyond the initial diagnosis of the facial angioma. The symptoms can include glaucoma, cerebral blood flow abnormalities and headaches. More research is needed on this type of Sturge Weber Syndrome. Type 3 has leptomeningeal angioma involvement exclusively. The facial angioma is absent and glaucoma rarely occurs. This type is only diagnosed via brain scan.[1]

Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary cause). It is caused by a somatic activating mutation occurring in the GNAQ gene.[2] Radiological findings will show tram track calcifications on CT, bilaterally.[3]

Signs and symptoms[edit]

Dilated bulbar vessels in Sturge–Weber syndrome



Some children will have developmental delays and cognitive delays; about 50% will have glaucoma (optic neuropathy often associated with increased intraocular pressure), which can be present at birth or develop later. Glaucoma can be expressed as leukocoria, which should include also further evaluation for retinoblastoma. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos).

Sturge–Weber syndrome rarely affects other body organs.

Seizures 75–90%
Vascular Headache 40–60%
Developmental (Cognitive) Delay 50–70%
Glaucoma 30–70%
Hemianopsia 40–45%
Hemiparesis 25–60%


The blood vessel formations associated with SWS start in the fetal stage. Around the sixth week of development, a network of nerves develops around the area that will become a baby’s head. Normally, this network goes away in the ninth week of development. In babies with SWS due to mutation of gene GNAQ, this network of nerves doesn’t go away. This reduces the amount of oxygen and blood flowing to the brain, which can affect brain tissue development.


CT and MRI are most often used to identify intracranial abnormalities. When a child is born with a facial cutaneous vascular malformation covering a portion of the upper or the lower eyelids, imaging should be performed to screen for intracranial leptomeningeal angiomatosis. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region.[5]




Complication[4] Treatment (1st choice) Treatment (2nd choice)
Glaucoma Beta blocker drops Adrenergic drops
Partial Epilepsy Carbamazepine Valproate, Topiramate
Headache Ibuprofen Sumatriptan
Strokelike Episodes Aspirin None
Neurobehavior Methylphenidate Clonidine


Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures are resistant to treatment. Studies do not support the widely held belief that seizure frequency early in life in patients who have SWS is a prognostic indicator.[4]


It occurs in approximately 1 in 50,000 newborns.[4]


It is named for William Allen Sturge and Frederick Parkes Weber.[7][8][9]

Society and culture[edit]

The Sturge-Weber Foundation's (The SWF) international mission is to improve the quality of life and care for people with Sturge–Weber syndrome and associated port wine birthmark conditions. It supports affected individuals and their families with education, advocacy, and research to promote effective management and awareness. The SWF was founded by Kirk and Karen Ball, who began searching for answers after their daughter was diagnosed with Sturge–Weber syndrome at birth. The SWF was incorporated in the USA in 1987 as an International 501(c)(3) non-profit organization. In 1992, the mission was expanded to include individuals with capillary vascular birthmarks, Klippel Trenaunay (KT) and Port Wine Birthmarks.

The Hemispherectomy Foundation was formed in 2008 to assist families with children who have Sturge–Weber syndrome and other conditions that require hemispherectomy.[10] The Brain Recovery Project was formed in 2011 to fund research and establish rehabilitation protocols to help children who have had hemispherectomy surgery reach their full potential.


Sturge Weber UK has created an annual Sturge Weber Awareness Day to coincide with William Allen Sturge's birth date on November 1. The Sturge Weber Awareness Day is a collaboration with international Sturge Weber support groups to raise public and professional awareness of Sturge Weber syndrome around the world.


  1. ^ [1]
  2. ^ Shirley, Matthew D.; Tang, Hao; Gallione, Carol J.; Baugher, Joseph D.; Frelin, Laurence P.; Cohen, Bernard; North, Paula E.; Marchuk, Douglas A.; Comi, Anne M.; Pevsner, Jonathan (8 May 2013). "Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in". New England Journal of Medicine. 368 (21): 1971–9. doi:10.1056/NEJMoa1213507. PMC 3749068Freely accessible. PMID 23656586. Retrieved 8 May 2013. 
  3. ^ Zaki, Syed Ahmed; Vijay Lad (July 2011). "Sturge-Weber syndrome with bilateral facial nevus and early cerebral calcification". Journal of Pediatric Neurosciences. 6 (2). doi:10.4103/1817-1745.92825. PMC 3296402Freely accessible. PMID 22408657. 
  4. ^ a b c d Thomas-Sohl, Kristin A; Vaslow, Dale F; Maria, Bernard L (May 2004). "Sturge-Weber syndrome: A review". Pediatric Neurology. 30 (5): 303–310. doi:10.1016/j.pediatrneurol.2003.12.015. PMID 28126187. 
  5. ^ "Sturge-Weber syndrome:". 
  7. ^ synd/1764 at Who Named It?
  9. ^ Weber FP (1922). "Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms". Journal of Neurology and Psychopathology. London. 3: 134–9. 
  11. ^

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