Multi-Center Assessment of Sturge-Weber Syndrome: A Retrospective Study of Variations in Care and Use of Natural History Data



      We summarize the history of individuals with SWS to inform clinical trial design and identify variations in care.


      Retrospective chart review of individuals with SWS from centers in NYC. We characterized data quality using a novel scoring system. For 13 clinical concepts, we evaluated if data were present and if high quality.


      We included 26 individuals with SWS (58% female; median age at initial visit 7y; absolute range 1m - 56y]). Twenty-two had nevus flammeus, 13 glaucoma, 4 homonymous hemianopia, and 15 hemiparesis. Nineteen of 21 had at least one confirmed seizure with a known first seizure date, all before 24 months. Most (18/26, 69%) epilepsy was controlled. A plurality (10/23, 43%) had either normal cognitive function or mild cognitive delays. Aspirin use varied by site (p = 0.02) – at four sites, use was 0% (0 of 3), 0% (0 of 4), 80% (4 of 5), and 64% (9 of 14). Data were present for more than 75% of cases for 11 of 13 clinical concepts (missing: age of diagnosis, age of glaucoma onset). There were gaps in level of detail for motor impairments, glaucoma severity, seizure history, cognition, and medication history.

      Key Words

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Pediatric Neurology
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Comi A.M.
        Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome.
        Neurologist. 2011; 17: 179-184
        • Maria B.L.
        • Neufeld J.A.
        • Rosainz L.C.
        • Drane W.E.
        • Quisling R.G.
        • Ben-David K.
        • et al.
        Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression.
        J Child Neurol. 1998; 13: 606-618
        • Comi A.M.
        Pathophysiology of Sturge-Weber syndrome.
        J Child Neurol. 2003; 18: 509-516
        • Comi A.M.
        Sturge-Weber syndrome.
        Handb Clin Neurol. 2015; 132
        • Day A.M.
        • Hammill A.M.
        • Juhász C.
        • Pinto A.L.
        • Steve Roach E.
        • McCulloch C.E.
        • et al.
        Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset.
        Pediatric Neurology. 2019; : 8-12
        • Udani V.
        • Pujar S.
        • Munot P.
        • Maheshwari S.
        • Mehta N.
        Natural History and Magnetic Resonance Imaging Follow-up in 9 Sturge-Weber Syndrome Patients and Clinical Correlation.
        Journal of Child Neurology. 2007; : 479-483
        • Bay M.J.
        • Kossoff E.H.
        • Lehmann C.U.
        • Andrew Zabel T.
        • Comi A.M.
        Survey of Aspirin Use in Sturge-Weber Syndrome.
        Journal of Child Neurology. 2011; : 692-702
        • Sabeti S.
        • Ball K.L.
        • Bhattacharya S.K.
        • Bitrian E.
        • Blieden L.S.
        • Brandt J.D.
        • et al.
        Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.
        Pediatr Neurol. 2021; : 121
        • Sabeti S.
        • Ball K.L.
        • Burkhart C.
        • Eichenfield L.
        • Fernandez F.E.
        • Frieden I.J.
        • et al.
        Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome.
        JAMA Dermatol. 2021; 157
      1. Center for Drug Evaluation, Research. Rare Diseases: Natural History Studies for Drug Development. In: U.S. Food and Drug Administration [Internet]. 15 Apr 2020 [cited 21 Feb 2022]. Available:

        • Grinspan Z.M.
        • Tian N.
        • Yozawitz E.G.
        • McGoldrick P.E.
        • Wolf S.M.
        • McDonough T.L.
        • et al.
        Common terms for rare epilepsies: Synonyms, associated terms, and links to structured vocabularies.
        Epilepsia open. 2018; 3
        • Lance E.I.
        • Sreenivasan A.K.
        • Zabel T.A.
        • Kossoff E.H.
        • Comi A.M.
        Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes.
        J Child Neurol. 2013; 28
        • Kelley T.M.
        • Hatfield L.A.
        • Lin D.D.
        • Comi A.M.
        Quantitative analysis of cerebral cortical atrophy and correlation with clinical severity in unilateral Sturge-Weber syndrome.
        J Child Neurol. 2005; 20
        • Ewen J.B.
        • Kossoff E.H.
        • Crone N.E.
        • Lin D.D.
        • Lakshmanan B.M.
        • Ferenc L.M.
        • et al.
        Use of quantitative EEG in infants with port-wine birthmark to assess for Sturge-Weber brain involvement.
        Clin Neurophysiol. 2009; 120
        • Kossoff E.H.
        • Bachur C.D.
        • Quain A.M.
        • Ewen J.B.
        • Comi A.M.
        EEG evolution in Sturge-Weber syndrome.
        Epilepsy Res. 2014; 108
      2. R Development Core Team. The R Reference Manual: Base Package. Network Theory.; 2003.

      3. Wilkinson L. ggplot2: Elegant Graphics for Data Analysis by WICKHAM, H. Biometrics. 2011. pp. 678–679. doi:10.1111/j.1541-0420.2011.01616.x

        • Powell S.
        • Fosi T.
        • Sloneem J.
        • Hawkins C.
        • Richardson H.
        • Aylett S.
        Neurological presentations and cognitive outcome in Sturge-Weber syndrome.
        Eur J Paediatr Neurol. 2021; 34: 21-32
        • Comi A.
        Current Therapeutic Options in Sturge-Weber Syndrome.
        Semin Pediatr Neurol. 2015; 22
        • Sujansky E.
        • Conradi S.
        Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children.
        J Child Neurol. 1995; 10
        • Javaid U.
        • Ali M.H.
        • Jamal S.
        • Butt N.H.
        Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.
        Int Ophthalmol. 2018; 38
        • Abdolrahimzadeh S.
        • Scavella V.
        • Felli L.
        • Cruciani F.
        • Contestabile M.T.
        • Recupero S.M.
        Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?.
        Biomed Res Int. 2015; 2015
        • Sinawat S.
        • Auvichayapat N.
        • Auvichayapat P.
        • Yospaiboon Y.
        • Sinawat S.
        12-year retrospective study of Sturge-Weber syndrome and literature review.
        J Med Assoc Thai. 2014; 97 (Available:)
        • Tillmann R.P.
        • Ray K.
        • Aylett S.E.
        Transient episodes of hemiparesis in Sturge Weber Syndrome - Causes, incidence and recovery.
        Eur J Paediatr Neurol. 2020; 25
        • Zolkipli Z.
        • Aylett S.
        • Rankin P.M.
        • Neville B.G.
        Transient exacerbation of hemiplegia following minor head trauma in Sturge-Weber syndrome.
        Dev Med Child Neurol. 2007; 49
      4. Singh AK, Keenaghan M. Sturge-Weber Syndrome. StatPearls [Internet]. StatPearls Publishing; 2021.

        • Dymerska M.
        • Kirkorian A.Y.
        • Offermann E.A.
        • Lin D.D.
        • Comi A.M.
        • Cohen B.A.
        Size of Facial Port-Wine Birthmark May Predict Neurological Outcome in Sturge-Weber Syndrome.
        J Pediatr. 2017; 188: 205
        • Waelchli R.
        • Aylett S.E.
        • Robinson K.
        • Chong W.K.
        • Martinez A.E.
        • Kinsler V.A.
        New vascular classification of port-wine stains: improving prediction of Sturge–Weber risk.
        Br J Dermatol. 2014; 171: 861
        • van Raath M.I.
        • Chohan S.
        • Wolkerstorfer A.
        • van der Horst C.M.A.M.
        • Limpens J.
        • Huang X.
        • et al.
        Clinical outcome measures and scoring systems used in prospective studies of port wine stains: A systematic review.
        PLoS One. 2020; 15
        • Gilmore R.
        • Sakzewski L.
        • Boyd R.
        Upper limb activity measures for 5- to 16-year-old children with congenital hemiplegia: a systematic review.
        Dev Med Child Neurol. 2010; 52
        • Wallen M.
        • Stewart K.
        Upper limb function in everyday life of children with cerebral palsy: description and review of parent report measures.
        Disabil Rehabil. 2015; 37
        • Dahlmann-Noor A.
        • Tailor V.
        • Bunce C.
        • Abou-Rayyah Y.
        • Adams G.
        • Brookes J.
        • et al.
        Quality of Life and Functional Vision in Children with Glaucoma.
        Ophthalmology. 2017; 124
      5. Weiss LG, Oakland T, Aylward GP. Bayley-III Clinical Use and Interpretation. Academic Press; 2010.

        • Farmer C.
        • Adedipe D.
        • Bal V.H.
        • Chlebowski C.
        • Thurm A.
        Concordance of the Vineland Adaptive Behavior Scales, second and third editions.
        J Intellect Disabil Res. 2020; 64
      6. Scattone D, Raggio DJ, May W. Comparison of the Vineland Adaptive Behavior Scales, Second Edition, and the Bayley Scales of Infant and Toddler Development, Third Edition. Psychol Rep. 2011;109. doi:10.2466/03.10.PR0.109.5.626-634