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Sturge-Weber Syndrome

Summary

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  • Rare neurocutaneous disorder characterised by facial port-wine stain, leptomeningeal angioma, and glaucoma
  • Caused by somatic mosaic mutation in GNAQ gene1
  • Imaging findings include cerebral calcifications, cortical atrophy, and leptomeningeal enhancement

Pathophysiology

  • Somatic activating mutation in GNAQ gene (c.548G>A, p.R183Q)1
  • Leads to abnormal development of blood vessels in face, brain, and eye
  • Results in:
    • Facial port-wine stain (capillary malformation)
    • Leptomeningeal angiomatosis
    • Choroidal vascular malformation

Demographics

  • Incidence: 1 in 20,000 to 50,000 live births2
  • No gender predilection
  • Typically sporadic, not inherited
  • Presents at birth or early infancy

Diagnosis

  • Clinical triad:
    1. Facial port-wine stain (usually in V1 distribution of trigeminal nerve)
    2. Leptomeningeal angioma
    3. Glaucoma
  • Other features:
    • Seizures (often refractory)
    • Developmental delay
    • Hemiparesis
    • Visual field defects

Imaging

  • CT findings:
    • Gyriform calcifications in cerebral cortex
    • Cortical atrophy
    • Enlarged choroid plexus
  • MRI findings:
    • T1-weighted:
    • Cortical atrophy
    • Enlarged choroid plexus
    • T2-weighted:
    • Leptomeningeal enhancement
    • White matter hypointensity (calcifications)
    • Susceptibility-weighted imaging (SWI):
    • Prominent cortical veins
    • Gyriform calcifications
  • Angiography:
    • Leptomeningeal angiomatosis
    • Abnormal cortical veins

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  • 20-year-old patient with Struge-Weber syndrome has left sided hemiatrophy, cortical/subcortical calcification, enhancement in the leptomeningeal enhancement, calvarial hyperostosis and frontal sinus dilatation.

Treatment

  • Multidisciplinary approach:
    • Neurology: Anticonvulsants for seizure control
    • Ophthalmology: Management of glaucoma
    • Dermatology: Laser therapy for port-wine stain
  • Surgical options:
    • Hemispherectomy for refractory seizures3
    • Focal resection of epileptogenic cortex
  • Aspirin: May reduce stroke-like episodes4
  • Endocrine management: For growth hormone deficiency and hypothyroidism
  • Rehabilitation: Physical and occupational therapy for hemiparesis

Differential diagnosis

Differential Diagnosis Distinguishing Feature
Dyke-Davidoff-Masson syndrome Unilateral cerebral atrophy with calvarial thickening and ipsilateral sinus hyperpneumatisation; no gyriform calcifications or pial enhancement
Hemimegalencephaly Unilateral hemispheric enlargement with cortical dysplasia; no leptomeningeal angiomatosis or pial enhancement
Tuberous sclerosis Cortical tubers and subependymal nodules on MRI; calcifications on CT; no unilateral pial angioma or progressive cerebral atrophy
PHACE syndrome Posterior fossa malformations (cerebellar hypoplasia, Dandy-Walker); ipsilateral large facial haemangioma; no leptomeningeal enhancement or gyriform calcifications
Cobb syndrome Spinal rather than intracranial leptomeningeal vascular malformation; no ipsilateral cerebral atrophy or gyriform calcifications

  1. Shirley MD, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971-1979. PMID: 23656586 ↩↩

  2. Comi AM. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist. 2011;17(4):179-184. PMID: 21712663 ↩

  3. Kossoff EH, et al. Hemispherectomy for intractable unihemispheric epilepsy: outcome in 26 patients. Neurology. 2003;61(11):1551-1558. PMID: 14663041 ↩

  4. Lance EI, et al. Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. J Child Neurol. 2013;28(2):213-218. PMID: 22850081 ↩