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Sturge-Weber syndrome (SWS)

Sturge-Weber syndrome (SWS, also called encephalofacial or encephalotrigeminal angiomatosis) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with a vascular malformation of the brain (leptomeningeal angioma) with or without glaucoma

Sturge-Weber syndrome (SWS, also called encephalofacial or encephalotrigeminal angiomatosis) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with a vascular malformation of the brain (leptomeningeal angioma) with or without glaucoma

  • Sporadic developmental disorder caused by somatic mosaic mutations in the GNAQ gene which is located on the long arm of chromosome 9

Clinical features

Capillary malformation of the face (port-wine birthmark):

HALLMARK FEATURE
  • Port-wine stain (facial nevus): Typically seen along ophthalmic/maxillary segment of CN V (forehead, cheeks)
  • Infantile hemangioma (more common than port-wine stain but not present at birth)
Child with Sturge-Weber syndrome, right-sided facial port-wine birthmark and right eye involvement. | Comi A. (2015). Current Therapeutic Options in Sturge-Weber Syndrome. Seminars in pediatric neurology, 22(4), 295–301. https://doi.org/10.1016/j.spen.2015.10.005

Capillary-venous malformation in the eye:

  • Glaucoma (ipsilateral to the facial port-wine stain) (M/C ocular manifestation of SWS)
  • Diffuse choroidal hemangioma (20% cases): Ipsilateral to facial port-wine stain; Grow slowly and usually do not cause any symptoms
  • Increased vascularity of the conjunctiva
  • Eye enlargement
  • Strabismus
  • Increased tearing

Capillary-venous malformation in the brain (leptomeningeal angioma):

SWS may present with cerebral symptoms without facial findings
  • Seizures (first neurological manifestation): Infantile spasms (90% cases in the first year of life) followed by atonic, tonic, or myoclonic seizures
  • Mental retardation
  • Early handedness
  • Gaze preferences

Diagnosis

Diagnosis is based on typical clinical symptoms, facial appearance, and brain magnetic resonance imaging (MRI) findings.

Fundus examination:

Retina overlying the choroidal hemangioma may be normal; however, it may also show pathological changes:
  • Epithelial atrophy/proliferation
  • Drusen formation
  • Retinal detachment
  • Epithelial atrophy/proliferation
  • Drusen formation
  • Retinal detachment

MRI brain with contrast:

Recommended imaging modality of choice
  • Early phase: Transient hyperperfusion with accelerated myelin maturation, leptomeningeal enhancement (seen as serpiginous enhancement along the sulci) and restricted diffusion if there is associated acute ischemic event
  • Late phase: Increased T2 signal is seen in the region of gliosis with decreased pial enhancement and cortical atrophy
Sturge-Weber syndrome brain involvement. (A) T1-weighted postcontrast enhanced axial MRI 3-T demonstrating increased leptomeningeal enhancement of the leftparietal-occipitallobes (arrow). Enhancement (arrow) in the left hemisphere also seen on coronal images (B) of this child with Sturge-Weber syndrome. | Comi A. (2015). Current Therapeutic Options in Sturge-Weber Syndrome. Seminars in pediatric neurology, 22(4), 295–301. https://doi.org/10.1016/j.spen.2015.10.005

Differential diagnosis:

  • Blue rubber bleb nevus syndrome
  • Klippel-Trenaunay-Weber syndrome
  • PHACES (posterior fossa abnormalities, hemangiomas, arterial anomalies, cardiac, eye, and sternal anomalies)
  • Wyburg-Mason syndrome

Management

Primary aim of pharmacologic treatment is to minimize, or optimally eliminate seizure activity.

Seizure management:

  • Low-dose aspirin

Laser photocoagulation:

Treatment for port-wine stain by irreversible damage to the blood vessels without damage to the other skin components

Surgical management:

May be considered in patients who fail medical management and continue to have refractory seizures
  • Hemispherectomy
  • Focal resection of the seizure focus

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