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: 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; · 1.03 Impact Factor
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ABSTRACT: Sturge-Weber syndrome is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata and angioma involving the ipsilateral eye. Our understanding of the disease process has vastly improved since it was first described in 1879, with recent identification of an activating somatic mutation in the GNAQ gene found in association with both Sturge-Weber syndrome and non-syndromic facial port-wine stain. Sturge-Weber syndrome is marked by a variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. More recently, the increased prevalance of otolaryngological, endocrine and emotional-behavioural issues have been established. Neurophysiology and neuroimaging studies provide information regarding the evolution of changes in Sturge-Weber syndrome over time. Early recognition and aggressive management of symptoms remains cornerstone in the management of this syndrome. An international collaborative effort is needed to maximise our understanding of the natural history and response to interventions in Sturge-Weber Syndrome.European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 11/2013; · 2.01 Impact Factor
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