Sturge Weber syndrome (SWS): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Sturge Weber syndrome (SWS): clinical features. This is caused by mutations in the GNAQ gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the GNAQ gene

Classification

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Developmental features

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Stroke-like episodes features

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Seizure features

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Headache features

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Other neurological features

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Psychiatric features

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Ophthalmic features

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Cutaneous features

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Orthopaedic features

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Differential diagnosis

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Poor prognostic features

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Synonym

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Acronym

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References

  1. Anderson FH, Duncan GW. Sturge-Weber disease with subarachnoid hemorrhage. Stroke 1974; 5:509-511.
  2. Zhu M, Li X, Zhou M, Wan H, Wu Y, Hong D. Sturge-Weber syndrome  coexisting with episodes of rhabdomyolysis. BMC Neurology 2013; 13:169.
  3. Wahab A, Wahab S, Khan RA, Goyal R, Dabas N. Sturge Weber syndrome: a review. Bombay Hosp J 2008; 50:55-58.
  4. De la Torre AJ, Luat AF, Juhász C, et al. A multidisciplinary consensus for clinical care and research needs for Sturge-Weber syndrome. Pediatr Neurol 2018; 84:11-20. 
  5. Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013; 368:1971-1979.
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