[Sturge-Weber syndrome. The current neuroradiologic data].
Sturge-Weber syndrome (SWS) is a rare congenital sporadic disease with neuro-ocular and cutaneous vascular findings. Clinically, the full-blown condition consists of a facial port-wine stain (PWS) involving the V1 facial trigeminal skin area, alone or in combination with V2 and V3PWS, seizures and ocular abnormalities (glaucoma and choroidal angioma). Radiologically, a leptomeningeal (pial) capillary and venous malformation, mostly located in the parieto-occipital area, cerebral atrophy and calcifications are demonstrated. An ipsilateral enlarged choroid plexus may be an early anatomic symptom. Developmental venous anomalies (DVA) of the brain are sometimes associated. MR with gadolinium enhancement is the optimal neuro-diagnostic imaging technique for the screening of infants with an at-risk V1PWS, as well as for the follow-up of patients with evidence SWS. Accelerated myelination in the involved hemisphere may be an early diagnostic feature before 6 months of age. Later, hyperintensity of white matter on T2 is considered a symptom of gliosis. Clinically, progression of the diseases is associated with anatomic changes and correlates with the extent of the pial vascular anomaly, extent and severity of cerebral atrophy, and white matter abnormalities. A neonatal neuro-imaging work-up, using CT or MRI, may not demonstrate the pial anomaly and should be repeated after 6 to 12 months in an at-risk infant with V1PWS.
Service de Neuroradiologie et d'Angiographie Thérapeutique, Hôpital Lariboisière, Paris.
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Boukobza
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Enjolras
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Cambra
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Merland
D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D013341:Sturge-Weber Syndrome / Q000000981:diagnostic imaging* / Q000473:pathology*; D014057:Tomography, X-Ray Computed