Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.
Pediatr Neurol
; 96: 30-36, 2019 07.
Article
en En
| MEDLINE
| ID: mdl-30853154
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.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Procedimientos Quirúrgicos Oftalmológicos
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Síndrome de Sturge-Weber
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Glaucoma
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Mancha Vino de Oporto
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Procedimientos Neuroquirúrgicos
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Accidente Cerebrovascular
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Epilepsia
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Discapacidades para el Aprendizaje
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Discapacidad Intelectual
Tipo de estudio:
Clinical_trials
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Diagnostic_studies
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Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2019
Tipo del documento:
Article