Sturge-Weber Syndrome with Cortical Blindness

  • An-Guor Wang


A 5-year-old girl visited our clinic with her mother. Her mother reported that her daughter usually looked at objects with a lateral gaze. She also often runs into things with her right side and easily gets the right side of her clothes dirty while eating. The patient presented with multiple erythematous patches on her right forehead (Fig. 19.1) and was previously diagnosed to have Sturge-Weber syndrome. She also had a past medical history of epilepsy under medical control. Her visual acuity was 6/6 in both eyes. Intraocular pressures were normal. She exhibited orthophoria with a full range of movement in both eyes. Fundoscopic examination showed large cupping of the optic discs in both eyes (Fig. 19.2). OCT examination revealed decreased thickness of the peripapillary retinal nerve fiber layer (RNFL) in both eyes. In addition, it demonstrated a special pattern of hemi-loss of the left-sided ganglion cell-inner plexiform layer (GC-IPL) (Fig. 19.3). A visual field examination showed incongruous right homonymous hemianopia in both eyes (Fig. 19.4), corresponding with the hemi-loss of left GC-IPL observed. We arranged a CT scan of the brain which showed several spots of high density in the left parietal region (Fig. 19.5). A vascular lesion or migration disorder was suspected. MR imaging of the brain revealed smaller-sized left temporo-parieto-occipital lobes, associated with less gyration, extensive pia enhancement, and relatively larger left-sided choroid plexuses. MR angiography showed extensive leptomeningeal angiomatosis over left side (Fig. 19.6). These imaging findings are compatible with the CNS involvement present in Sturge-Weber syndrome.


  1. 1.
    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;368:1971–9.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Haslam R. Neurocutaneous syndromes. 15th ed. Philadelphia: W. B. Saunders; 1996.Google Scholar
  3. 3.
    Tallman B, Tan OT, Morelli JG, et al. Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics. 1991;87:323–7.PubMedPubMedCentralGoogle Scholar
  4. 4.
    Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: a review. Pediatr Neurol. 2004;30(5):303–10.CrossRefPubMedGoogle Scholar
  5. 5.
    Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet. 1995;57:35–45.CrossRefPubMedGoogle Scholar
  6. 6.
    Cheng K. Ophthalmologic manifestations of Sturge-Weber syndrome. In: Bodensteiner JB, Roach ES, editors. Sturge-Weber syndrome. Mount Freedom: The Sturge-Weber Foundation; 1999. p. 17–26.Google Scholar
  7. 7.
    Mantelli F, Bruscolini A, La Cava M, Abdolrahimzadeh S, Lambiase A. Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. Clin Ophthalmol. 2016;10:871–8.PubMedPubMedCentralGoogle Scholar
  8. 8.
    Sudarsanam A, Ardern-Holmes SL. Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol. 2014;18(3):257–66.CrossRefPubMedGoogle Scholar
  9. 9.
    Comi A. Current therapeutic options in Sturge-Weber syndrome. Semin Pediatr Neurol. 2015;22(4):295–301.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Koenraads Y, van Egmond-Ebbeling MB, de Boer JH, Imhof SM, Braun KP, Porro GL, SWS Study Group. Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort. Acta Ophthalmol. 2016;94(7):638–45.CrossRefPubMedGoogle Scholar
  11. 11.
    Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neurol. 2008;39:58–62.CrossRefPubMedGoogle Scholar

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© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • An-Guor Wang
    • 1
  1. 1.Department of OphthalmologyTaipei Veterans General Hospital, National Yang-Ming University School of Medicine, Yun-San Ophthalmology Education Research FoundationTaipeiTaiwan

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