Practice Essentials
Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The hallmark of SWS is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain (PWS).
Signs and symptoms
SWS is generally diagnosed clinically, based on the typical cutaneous, central nervous system (CNS), and ocular abnormalities associated with it. Neurological signs include the following:
Developmental delay/intellectual disability
Learning problems
Attention deficit-hyperactivity disorder
Factors suggesting a progressive course of cortical damage in SWS include the following:
Initial focal seizures progressing to frequent, secondarily generalized seizures
Increasing seizure frequency and duration despite the use of antiepileptic drugs (AEDs)
Increasing duration of a transient postictal deficit
Increase in focal or diffuse atrophy – Determined by serial neuroimaging
Progressive increase in calcifications
Development of hemiparesis
Deterioration in cognitive functioning
Physical signs of SWS are as follows:
Port-wine stain
Macrocephaly
Ocular manifestations
Soft-tissue hypertrophy
Hemiparesis
Visual loss
Hemianopsia
Ocular involvement in SWS may include the following signs:
Hemangiomalike, superficial changes (which on histology demonstrate only venous dilation) in the eyelid
Buphthalmos
Glaucoma
Tomato-catsup color of the fundus (ipsilateral to the nevus flammeus) with glaucoma
Conjunctival and episcleral hemangiomas
Diffuse choroidal hemangiomas
Heterochromia of the irides
Tortuous retinal vessels with occasional arteriovenous communications
Ocular signs that may indicate the presence of infantile glaucoma include the following:
Corneal diameter of more than 12 mm during the first year of life
Corneal edema
Tears in the Descemet membrane (Haab striae)
Unilateral or bilateral myopic shift
Optic nerve cupping greater than 0.3
Any cup asymmetry associated with intraocular pressure (IOP) above the high teens
Optic nerve damage – Resulting in myopia, anisometropia, amblyopia, strabismus, and visual field defects
Diagnosis
In young patients, examination under anesthesia or deep sedation is necessary to confirm the diagnosis of glaucoma. Careful assessment in each eye of IOP, corneal diameter, cycloplegic refraction, axial length, and optic nerve cupping, as well as gonioscopic examination, is mandatory.
Cerebrospinal fluid (CSF) protein may be elevated, presumably secondary to microhemorrhage. Note that a major intracranial hemorrhage itself is rare in SWS, although microhemorrhage may be common.
Besides the clinical examination, the following have historically been the procedures of choice to establish the diagnosis of SWS:
Skull radiography
Angiography
Computed tomography (CT) scanning
Magnetic resonance imaging (MRI)
MRI with gadolinium
Functional imaging – With single-photon emission computed tomography (SPECT) or positron emission tomography (PET) scanning
In the diagnosis of diffuse choroidal hemangioma, A-scan and B-scan ultrasonography may be useful diagnostic aids. B-scan ultrasonography characteristically shows a solid, echogenic mass, whereas A-scan ultrasonography demonstrates high internal reflectivity.
Electroencephalography (EEG) is used for the evaluation of seizures; it can also localize seizure activity when epilepsy surgery is considered for refractory seizures.
Management
Medical care in SWS includes anticonvulsants for seizure control, symptomatic and prophylactic therapy for headache, glaucoma treatment to reduce IOP, and laser therapy for the PWS.
Antiepileptic medications
An antiepileptic medication with efficacy in focal seizures is preferable in SWS. The chance of achieving seizure control with medical therapy in patients with SWS varies.
Glaucoma medications
The goal of treatment is control of IOP to prevent optic nerve injury. This can be achieved with the following agents:
Beta-antagonist eye drops – Decrease the production of aqueous fluid
Carbonic anhydrase inhibitors – Also decrease production of aqueous fluid
Adrenergic eye drops and miotic eye drops – Promote drainage of aqueous fluid
Dye laser photocoagulation
Treatment of the cutaneous PWS with dye laser photocoagulation has been helpful in reducing the cosmetic blemish from the cutaneous vascular dilatation.
Surgery
Surgery is desirable in patients with SWS who have refractory seizures, glaucoma, or specific problems related to various SWS-associated disorders, such as scoliosis.
Surgical procedures for seizures that are refractive to medical treatment include the following
:
Focal cortical resection
Hemispherectomy
Corpus callosotomy
Vagal nerve stimulation (VNS)
Procedures for the treatment of diffuse choroidal hemangiomas with retinal detachment include the following:
Cryotherapy and diathermy
Xenon arc or argon laser photocoagulation
Subretinal fluid drainage
Radiation therapy
A retrospective analysis of five patients treated for diffuse choroidal hemangioma associated with Sturge-Weber syndrome found that ruthenium-106 plaque radiotherapy is an effective and safe treatment.
Surgical options for glaucoma in SWS include the following:
Goniotomy
Trabeculotomy
Full-thickness filtration surgery
Partial-thickness filtration surgery (trabeculectomy)
Combined trabeculotomy-trabeculectomy
Argon laser trabeculoplasty
Neodymium:yttrium-aluminum-garnet (Nd:YAG) laser goniotomy
Seton procedures