Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies.
ABSTRACT Sturge-Weber syndrome (SWS) is defined by the association of a facial capillary malformation (port-wine stain), with a vascular malformation of the eye, and/or vascular malformation of the brain (leptomeningeal angioma). Variants exist where only one of these three structures is involved with the vascular malformation. SWS occurs sporadically and is congenital. Port-wine stains occur in 3 per 1000 live births. No good population-based data exist for how many people have Sturge-Weber syndrome, however, estimates range between one in 20-50,000 live births. This review summarizes literature regarding the main features and pathophysiology of Sturge-Weber syndrome, however the cause of this syndrome remains obscure. Recent advances in neuroimaging have provided important insights into the progression of neurologic injury that occurs as a result of impaired blood flow. Important limitations exist, however, as currently the early diagnosis and exclusion of Sturge-Weber syndrome is impaired by the poor sensitivity of imaging in the newborn period and early infancy. Several important controversies complicate our ability to care for these patients and include the questions of ideal timing of surgery, whether seizures themselves contribute to the neurologic injury, and what the role of low-dose aspirin should be. This review will summarize several recent advances in our understanding of the mechanisms of brain injury in SWS, new measures for quantifying the neurologic involvement and new approaches and controversies in the management of the neurologic complications.
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ABSTRACT: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular malformations. Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. In this study, we investigated somatic mutations in GNAQ by next-generation sequencing. We first performed targeted amplicon sequencing of 15 blood-brain-paired samples in sporadic SWS and identified the recurrent somatic c.548G>A mutation in 80% of patients (12 of 15). The percentage of mutant alleles in brain tissues of these 12 patients ranged from 3.6 to 8.9%. We found no other somatic mutations in any of the seven GNAQ exons in the remaining three patients without c.548G>A. These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for SWS and imply that other mutated candidate gene(s) may exist in SWS.Journal of Human Genetics advance online publication, 6 November 2014; doi:10.1038/jhg.2014.95.Journal of Human Genetics 11/2014; 59(12). DOI:10.1038/jhg.2014.95 · 2.53 Impact Factor
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ABSTRACT: Pyogenic Granuloma(PG) is a commonly occurring non-neoplastic inflammatory lesion in the oral cavity. Recent reports have demonstrated a rare association between skin PG and PWS. Various treatment modalities like complete excision, curettage, cryotherapy, chemical and electric cauterization, lasers, and intralesional corticosteroids have been employed to treat the lesion. In this case report we present a novel method for the treatment of recurrent PG in a female subject with concurrent presentation of Port Wine Stain(PWS). In this patient sclerotherapy with Sodium Tetradecyl Sulphate(STS) was employed as a treatment modality with successful resolution of the lesion. The authors thus conclude that sclerotherapy with STS can be an effective alternative for the treatment of recurrent PG associated with port wine stain.Annals of Vascular Surgery 08/2014; DOI:10.1016/j.avsg.2014.01.009 · 1.03 Impact Factor
Journal de Pédiatrie et de Puériculture 12/2013; DOI:10.1016/j.jpp.2013.08.003