BASICS

DESCRIPTION

• Sturge–Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a congenital dermato-oculo-neural syndrome.

– Cutaneous nevus flammeus in distribution of trigeminal nerve branches

– Ipsilateral glaucoma and diffuse choroidal hemangioma may occur.

– Ipsilateral meningeal hemangiomatosis

EPIDEMIOLOGY

• Frequency is estimated at 1 in 50,000 live births

• No apparent gender or racial predilection

RISK FACTORS

Genetics

• Typically sporadic with no genetic inheritance pattern

• Rare familial clusters reported but inheritance pattern unclear

ETIOLOGY

Embryonal developmental anomaly due to errors in mesodermal and ectodermal development

DIAGNOSIS

• Ophthalmic features:

– Diffuse choroidal hemangioma (50% of patients) ipsilateral to facial nevus flammeus characterized by a much more saturated reddish appearance compared with contralateral eye (“tomato-catsup fundus”)

– Retinal vascular tortuosity and serous retinal detachment may occur.

– Telangiectasia of conjunctival and episcleral vessels

– Glaucoma (up to 70% of patients) ipsilateral to facial nevus flammeus especially when eyelids are involved may result from elevated episcleral venous pressure, angle malformation, or both.

– Buphthalmos may result in cases of congenital glaucoma.

– Iris heterochromia

– Anisometropic amblyopia

• Cutaneous features:

– Facial nevus flammeus (“port-wine stain”): unilateral flat to thickened zone of dilated telangiectatic cutaneous capillaries appearing light pink to deep purple in coloration

– Involves region innervated by first branch (most common), first and second branches, or all three branches (least common) of trigeminal nerve

– Localized hypertrophy of ipsilateral nasal and buccal mucosa may occur.

• CNS features:

– Ipsilateral leptomeningeal hemangiomatosis

– May be associated with cortical atrophy, seizures (80% of patients), recurrent stroke-like episodes, and developmental delay

– Recurrent headaches (30–50% of patients), contralateral hemiparesis, hemiplegia, and hemianopsia may also occur.

DIAGNOSTIC TESTS & INTERPRETATION

Diagnostic Procedures/Other

• MRI (preferred modality) or CT scans of the brain may be used to detect leptomeningeal hemangiomatosis, which is present from birth.

– Granular calcification of parenchymal brain tissue adjacent to cortical atrophy can often be seen on CT scan.

• Ultrasonography: B-scan mode shows generalized choroidal thickening; A-scan demonstrates high internal reflectivity.

Pathological Findings

• Facial nevus flammeus: dilated telangiectatic cutaneous capillaries in the dermis lined by single layer of endothelial cells

• Diffuse choroidal hemangioma:

– Cavernous vascular channels lined by mature endothelial cells and supported by thin intervascular fibrous septa

– May contain small, capillary-type vessels

– Terminate indistinctly in periphery without sharp margins

– Fibrous transformation of retinal pigment epithelium and calcification may occur.

– Sensory retina overlying hemangioma often thickened and cystic

DIFFERENTIAL DIAGNOSIS

• Klippel–Trenaunay–Weber syndrome: characteristics of SWS plus port-wine stains of extremities and hemihypertrophy of soft and bony tissues

• Beckwith–Wiedemann syndrome: facial port-wine stain, macroglossia, omphalocele, visceral hyperplasia with severe hypoglycemia due to pancreatic islet cell hyperplasia

TREATMENT

• Facial nevus flammeus: dermatologic vascular-specific pulsed-dye laser therapy

• Diffuse choroidal hemangioma: treatment usually considered when associated with macular edema or serous retinal detachment

– Photodynamic therapy

– Low-dose radiation therapy (external beam, proton beam, plaque radiotherapy, gamma knife radiotherapy, stereotactic radiotherapy)

• Glaucoma: topical drops

– First line: beta-blocker

– Second line: carbonic anhydrase inhibitor

– Third line: prostaglandin analog

– If medical therapy fails, see “Surgery/Other Procedures”

• CNS manifestations:

– Seizures treated with anticonvulsants

– Aspirin may be beneficial in patients with recurrent stroke-like episodes

Use with caution in children as aspirin use is associated with Reye syndrome

Varicella and annual influenza immunizations recommended to lower risk of Reye syndrome

ADDITIONAL TREATMENT

General Measures

• Address refractive error with glasses or contact lens.

• Treat amblyopia, which is typically anisometropic due to glaucoma-induced myopia.

SURGERY/OTHER PROCEDURES

• Subtotal hemispherectomy has been performed for intractable seizures or progressive mental deterioration.

• Trabeculectomy, aqueous tube shunt procedure, goniotomy, trabeculotomy, laser trabeculoplasty, or cyclodestructive procedures may be necessary to manage glaucoma if topical therapy is inadequate.

• Strabismus surgery as needed following completion of amblyopia therapy.

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

• Ophthalmologist

• Neurologist

• Neurosurgeon if intractable seizures

• Dermatologist

Patient Monitoring

See “Follow-up”

PATIENT EDUCATION

• Sturge–Weber Foundation (http://www.sturge-weber.org)

• Sturge–Weber Syndrome Community (http://www.swscommunity.org)

PROGNOSIS

Life expectancy appears to be significantly reduced especially in patients with profound mental retardation and intractable seizures compared with those with more limited disease.

COMPLICATIONS

• Visual loss due to amblyopia, glaucoma, or serous retinal detachment

• Progressive mental deterioration

• Seizures

ADDITIONAL READING

• Oakes WJ. The natural history of patients with the Sturge-Weber syndrome. Pediatr Neurosurg 1992;18:287–290.

• Patrianakos TD, Nagao K, Walton DS. Surgical management of glaucoma with the Sturge-Weber syndrome. Int Ophthalmol Clin 2008;48:63–78.

• Singh AD, Kaiser PK, Sears JE. Choroidal hemangioma. Ophthalmol Clin N Am 2005;18:151–161.

• Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus 1992;29:349–356.

CODES

ICD9

• 228.09 Hemangioma of other sites

• 362.17 Other intraretinal microvascular abnormalities

• 759.6 Other congenital hamartoses, not elsewhere classified

CLINICAL PEARLS

• Suspect glaucoma when the port-wine stain involves the eyelids.

• Neuroimaging should be performed especially in patients with choroidal hemangiomas since leptomeningeal hemangiomas are almost always present in these cases.

Stay updated, free articles. Join our Telegram channel

Join