Resources: EEG Evolution in Sturge-Weber Syndrome – PMC (nih.gov)
Sturge-Weber Syndrome | National Institute of Neurological Disorders and Stroke (nih.gov)
Sturge-Weber syndrome is a rare, neurological disorder present at birth characterized by a port-wine stain birthmark (may be absent in ~15% of cases) on the forehead and upper eyelid on one side of the face and the leptomeninges. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries (small blood vessels) around the trigeminal nerve just beneath the surface of the skin. (SWS) is also known as encephalotrigeminal angiomatosis with an estimated incidence of 1:50,000 that affects males and females equally. There are 3 types. Neurological symptoms may include:
- Seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity
- Intermittent or permanent muscle weakness
- Developmental delays and cognitive impairment
- Glaucoma (increased pressure within the eye) at birth or later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos)
- Migraines
Treatment is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. 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 start before the age of 2 and are resistant to treatment. Seizures are seen in 75-90% of patients. Communicating hydrocephalus may occur from increased venous pressure. Bilateral or lower facial port wine stain can occur, seen in 15% of patients.
Question:
A patient with a leptomeningeal angioma that is ipsilateral to the side of the port-wine stain, primarily over the occipital and posterior parietal head regions is at an increased risk for which of the following?
Results
#1. A patient with a leptomeningeal angioma that is ipsilateral to the side of the port-wine stain, primarily over the occipital and posterior parietal head regions is at an increased risk for which of the following?
A leptomeningeal angioma ipsilateral to the side of the port-wine stain, over occipital and posterior parietal regions predominantly, may cause ischemia, atrophy and calcification in the affected cortex (resulting in seizures and risk of progressive contralateral hemiparesis and homonymous hemianopia); and ocular (choroidal, scleral) angioma (in 30% of patients), causing glaucoma, iris heterochromia, or buphthalmos. Patients with Sturge-Weber syndrome are at risk of stroke, due to impaired venous drainage caused by leptomeningeal angiomas. Risk of stroke is increased by prolonged seizures or status epilepticus.
