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Pediatr Neurol. 2019 Jul;96:30-36. doi: 10.1016/j.pediatrneurol.2018.12.002. Epub 2018 Dec 20.

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Author information

1
Neurology, Hugo Moser Kennedy Krieger Research Institute, Baltimore, Maryland.
2
Department of Epidemiology and Biostatistics, University of California, San Francisco, California.
3
Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
4
Departments of Pediatrics, Neurology, and Neurosurgery, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, Michigan.
5
Neurology, Nationwide Children's Hospital, Columbus, Ohio.
6
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
7
Department of Neurology, Pediatric Epilepsy, New York University Langone Health, New York, New York.
8
The Sturge-Weber Foundation, Houston, Texas.
9
Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.
10
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.
11
Department of Neurology and Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland. Electronic address: comi@kennedykrieger.org.
12
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
13
Department of Neurosurgery, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.
14
Molecular Genetics and Microbiology Department, Duke University School of Medicine, Durham, North Carolina.
15
Vascular Biology Program, Boston Children's Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts.
16
Department of Opthalmology, Duke Eye Center, Duke University Medical Center, Durham, North Carolina.
17
Department of Neurology, Kennedy Krieger Institute, Baltimore, Maryland; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Abstract

BACKGROUND:

Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS.

METHODS:

The questionnaire was collected from 277 participants (age: two months to 66 years) with SWS brain involvement at seven US sites.

RESULTS:

Bilateral brain involvement was associated with both learning disorder and intellectual disability, whereas port-wine birthmark extent was associated with epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history of vascular birthmarks were also more likely to report symptomatic strokes, and family history of seizures was associated with earlier seizure onset. Learning disorder, intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual field deficit, and brain surgery were all significantly associated with earlier onset of seizures.

CONCLUSION:

The extent of brain and skin involvement in SWS, as well as the age of seizure onset, affect prognosis. Other genetic factors, particularly variants involved in vascular development and epilepsy, may also contribute to neurological prognosis, and further study is needed.

KEYWORDS:

Brain involvement; Family history; Gender; Glaucoma; Port-wine birthmark; Seizures; Sturge-Weber syndrome

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