Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control

J Pediatr. 2019 Dec;215:158-163.e6. doi: 10.1016/j.jpeds.2019.08.025. Epub 2019 Oct 3.


Objective: To examine the symptomatology and treatment of Sturge-Weber syndrome (SWS) from a large patient registry to identify common symptoms, clinical outcomes, and areas of unmet clinical need.

Study design: An online patient questionnaire was completed by 628 patients with clinically diagnosed SWS and/or a port-wine birthmark over a 19-year period. Statistical analysis focused on seizures as a primary outcome measure, as well as associated neurologic, ophthalmologic, and dermatologic attributes to understand some of the natural history of the disorder.

Results: The majority (92%) of patients had a port-wine birthmark, and 60% of the patients had neurologic symptoms, including seizures and stroke-like episodes. Glaucoma was present in 48% of the patients. Other common symptoms included behavioral (46%) and hearing (or vestibular) disorders (24%). Delayed diagnosis of SWS beyond 1 year after presentation of initial symptoms occurred in 16% of the patients, with 68% having clear preexisting comorbidities, especially headaches. Birthmarks on the forehead and scalp were associated with seizures (P < .001), whereas bilaterality of birthmarks was not. Only 49% of patients being treated for epilepsy were free of seizures.

Conclusions: Seizures and glaucoma were the primary drivers for a diagnosis of SWS in patients with delayed diagnosis, and hearing (or vestibular) and behavioral problems were also prevalent. The diagnosis of SWS was delayed when the predominant symptom was headache. Seizure control was quite poor in many patients with SWS. Our findings highlight an important need for detailed, longitudinal data to improve our understanding of SWS and develop better treatment strategies for patients with this disorder.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Delayed Diagnosis*
  • Disease Management*
  • Female
  • Follow-Up Studies
  • Forecasting
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Prevalence
  • Registries*
  • Retrospective Studies
  • Seizures / etiology*
  • Seizures / therapy
  • Sturge-Weber Syndrome / complications
  • Sturge-Weber Syndrome / diagnosis
  • Sturge-Weber Syndrome / epidemiology*
  • Surveys and Questionnaires
  • United States / epidemiology
  • Young Adult