Sturge-Weber Syndrome
Sturge-Weber Syndrome (aka encephalo-trigeminal angiomatosis)
- Encephalo-trigeminal angiomatosis describes two key manifestations of this disorder: leptomeningeal angiomas (encephalo-angiomatosis) and port-wine stains (trigeminal angiomatosis).
Genetics
- Congenital disorder that is sporadic (NOT inherited).
- Caused by a GNAQ gene mutation.
Key Clinical Effects
- Port-wine stains
- Incidence of port-wine stain in general population: 1 in 300 people
- Incidence of Sturge-Weber syndrome: 1 in 20-50,000 people
- Seizures
- The majority of infants with Sturge-Weber syndrome manifest with seizures within the 1st year of life
- Often contralateral focal motor seizures (with our without impairment in consciousness)
- Weakness (hemiplegia and hemiparesis)
- Visual field deficits
- Intellectual disability
- Diffuse choroidal hemangioma of the eye (as opposed to circumscribed hemangiomas)
- "Tomato ketchup" appearance
- Leads to high intraocular pressure
Pathology
- Developmental anomaly of neural crest derivatives that affects small diameter blood vessels and leads to the classic port-wine stain of the face in the Trigeminal Nerve (CN V) distribution; hence "encephalo-trigeminal" "angiomatosis".
- Ipsilateral venous angiomas in the leptomeninges leads to cortical disruption and is associated with seizures and cognitive dysfunction.
- Diffuse choroidal hemangioma leads to increased intraocular pressure, which leads to glaucoma.
Diagnosis
- Contrast-enhanced MRI in the first few months of life in newborns with a large facial port-wine stain is commonly used to evaluate for enhancing leptomeningeal vessels.
- Special MRI sequences are often used to visualize deep transmedullary veins.
Management
- Antiepileptic drug therapy
- Low-dose aspirin (3–5 mg/kg/day) can lead to a reduction in:
- Strokes (and stroke-like episodes)
- Seizures
- Laser therapy for the port-wine stain
- Intraocular pressure management with drops for glaucoma
References
- Bay, Mihee J., Eric H. Kossoff, Christoph U. Lehmann, T. Andrew Zabel, and Anne M. Comi. “Survey of Aspirin Use in Sturge-Weber Syndrome.” Journal of Child Neurology 26, no. 6 (June 2011): 692–702. https://doi.org/10.1177/0883073810388646.
- Ch’ng, Sydney, and Swee T. Tan. “Facial Port-Wine Stains - Clinical Stratification and Risks of Neuro-Ocular Involvement.” Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS 61, no. 8 (August 2008): 889–93. https://doi.org/10.1016/j.bjps.2007.05.011.
- Comi, Anne. “Current Therapeutic Options in Sturge-Weber Syndrome.” Seminars in Pediatric Neurology 22, no. 4 (December 2015): 295–301. https://doi.org/10.1016/j.spen.2015.10.005.
- Comi, Anne M. “Presentation, Diagnosis, Pathophysiology and Treatment of the Neurologic Features of Sturge-Weber Syndrome.” The Neurologist 17, no. 4 (July 2011): 179–84. https://doi.org/10.1097/NRL.0b013e318220c5b6.
- Scott, Ingrid U., George Alexandrakis, Ghassan J. Cordahi, and Timothy G. Murray. “Diffuse and Circumscribed Choroidal Hemangiomas in a Patient With Sturge-Weber Syndrome.” Archives of Ophthalmology 117, no. 3 (March 1, 1999): 406–7.
- Waelchli, R, SE Aylett, K Robinson, WK Chong, AE Martinez, and VA Kinsler. “New Vascular Classification of Port-Wine Stains: Improving Prediction of Sturge–Weber Risk.” The British Journal of Dermatology 171, no. 4 (October 2014): 861–67. https://doi.org/10.1111/bjd.13203.
- Yin, Xiao-Lei, Jian Ye, Rong-Di Yuan, and Shu-Xing Ji. “A Case of Circumscribed Choroidal Hemangioma in Sturge-Weber Syndrome in China.” International Journal of Ophthalmology 4, no. 2 (April 18, 2011): 210–11. https://doi.org/10.3980/j.issn.2222-3959.2011.02.22.
Image References
"Head CT of a patient with Sturge-Weber Syndrome"
- Gaillard, Frank. English: CT (without Contrast) of the Brain of a 20 Month Old Child with Sturge-Weber Syndrome Demonstrating Prominent Subcortical White Matter Calcification. The Entire Case (Including MRI Images Can Be Seen at Radiopaedia.Org Here. [object HTMLTableCellElement]. Own work. https://commons.wikimedia.org/wiki/File:Sturge-Weber_CT.jpg.
- Z Med Phys. 2006;16(4):240-50