Retrospective review of screening for Sturge‐Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high‐risk port‐wine stains

Abstract

Findings from this small cohort of individuals with port-wine stains that put them at high risk of Sturge-Weber syndrome suggest that children with positive screening magnetic resonance imaging will almost certainly develop Sturge-Weber syndrome but that negative screening magnetic resonance imaging cannot exclude Sturge-Weber syndrome (in up to 23.1% of cases). False-negative magnetic resonance imaging may delay seizure recognition. Seizure education, monitoring, and consideration of adjunctive electroencephalography are important irrespective of magnetic resonance imaging findings.

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

“…Individuals with facial vascular involvement are at risk for neurologic abnormalities. Consensus is for these individuals to be evaluated by a neurologist (Bachur & Comi, ; Zallmann et al, ). Some recommend brain imaging for all individuals before symptoms may be present (Waelchli et al, 2014), but the benefit of this approach is still under study (Zallmann et al, ).…”

“…Consensus is for these individuals to be evaluated by a neurologist (Bachur & Comi, ; Zallmann et al, ). Some recommend brain imaging for all individuals before symptoms may be present (Waelchli et al, 2014), but the benefit of this approach is still under study (Zallmann et al, ). Individuals with ocular melanosis are at higher risk for glaucoma and ocular melanoma (Shields et al, ), and children with ocular melanocytosis should be seen by an ophthalmologist and followed closely—up to twice yearly (Shields et al, ).…”

The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation

“…SWS can be diagnosed by typical clinical symptoms, facial appearance of the PWS and brain MRI. However, up to 23% SWS patients may show false-negative MRI results [4]. SWS can cause brain epilepsy, neurological impairment and eye glaucoma [12].…”

“…PWS initially appears as flat red macules in childhood; lesions tend to darken progressively to purple with soft tissue hypertrophy and, by middle age, often become raised as a result of the development of vascular nodules which are susceptible to spontaneous bleeding or hemorrhage [2,3]. Approximately 15–20% of children with an ophthalmic (V1) dermatomal facial PWS are at risk for Sturge Weber syndrome (SWS) [4], a neurocutaneous disorder with vascular malformations in the cerebral cortex on the same side of the facial PWS [5,6]. Seizures, glaucoma, cerebral cortex atrophy, developmental delay and intellectual impairments commonly occur in infancy and may worsen with age [5,6].…”

Neuroimaging in infants and children in select neurocutaneous disorders

“…8 MRI of the head with contrast can confirm SWS, but its sensitivity in children aged < 12 months has been questioned. 9 As 75% of infants with SWS present before this age with seizures, one approach is to image only symptomatic individuals, with consideration of imaging for 'highrisk' asymptomatic individuals at 12 months. 10 'High risk' was originally defined using the trigerminal classification, but Dutkiewicz et al have since defined 'hemifacial' and 'median' patterns (50-80% SWS risk) as indications for 'routine neuroimaging'.…”