Sturge-Weber syndrome is the very first disease in our "syndrome salute" series! We will be highlighting different syndromes with neurological implications with the goal of providing high-yield information on these otherwise complex disorders.
Sturge-Weber syndrome (SWS) is a rare congenital disorder caused by pathogenic variants that typically occur in the GNAQ gene. This gene encodes a protein that regulates signaling pathways within cells.
A key clinical feature of SWS is a "port wine" birthmark caused by disorganized capillary formation on the face, primarily on the forehead and upper eyelid. Additionally, there is often a capillary-venous malformation, known as a leptomeningeal angioma, that involves the brain and the eye. Because of this malformation, there can be both neurologic (seizures, intellectual disability) and ocular (visual field defects, glaucoma) symptoms in this syndrome.
SWS is primarily a clinical diagnosis based on evidence of the port wine birthmark and/or leptomeningeal angiomas. MRI with gadolinium contrast may show the presence of angiomas and provide more information regarding involvement of intracranial structures.
While there isn't a specific treatment for this syndrome, physicians can offer treatment for associated seizures, skin lesions, and ocular conditions such as glaucoma. Additionally, low-dose aspirin is offered for all children diagnosed with SWS as it may prevent deterioration of cerebral blood flow and resulting neuronal injury.
Thanks for tuning in for our first syndrome salute!
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