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Sturge-Weber Syndrome

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

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