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

Key Clinical Effects

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)

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

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.

Susceptibility weighted (SWI) venogram