![]() In fact, Schirmer described a male patient with a facial nevus and buphthalmos in 1860, however, he did not recognize that it was a neurological condition 20. Radiographic identification of cerebral calcification was first described by Dimitri in 1922 2,18,20. In 1912 Weber and Volland described the intracranial calcification. It took until 1901 for Kalischer to provide the pathological confirmation that the pial angioma caused the neurological sequelae 20. Sturge-Weber syndrome was first described by Sturge in 1879 who argued that there was a direct link between the intracranial hemangioma and the clinical presentation, although this was not accepted by his medical peers. An ophthalmological examination is also essential to identify and treat ocular involvement 3. ![]() Treatment revolves primarily around seizure control, with surgical resection only indicated rarely in refractory cases. In most cases (82%), angiography is abnormal and demonstrates absent superficial cortical veins with abnormal and enlarged deep venous drainage 2. GE/SWI/EPI: sensitive to calcification, seen as regions of signal dropout Postulated accelerated myelination in neonate 1Ībnormal deep venous drainage seen as flow voids Low signal in white matter subjacent to angioma representing Much later in life, the angioma may "burn out", losing enhancement 1ĭilatation of transparenchymal veins that communicates between the superficial and deep venous systems Prominent leptomeningeal enhancement in the affected area (due to congested internal cerebral veins, a manifestation of the so-called "pial angiomatosis", resulting in venous congestive ischemia with infarction and obliteration of cerebral parenchyma) T1: signal of the affected region is largely normal, with anatomic volume loss evident at an older age Orbital choroidal hemangiomas may be presentĪsymmetric cavernous sinus enlargement 22 In severe cases, a Dyke-Davidoff-Masson appearance may be seen Ipsilateral choroid plexus may be enlarged Tram-track sign of cortical and subcortical calcification 13,14Ĭalvarial and regional sinus enlargement may be evident Subcortical calcification (seen at an earlier age than plain film) and associated parenchymal volume loss ![]() The finding usually becomes evident between 2-7 years of age 2. Skull radiographs were historically useful and capable of identifying the gyriform calcification of the subcortical white matter although they no longer play a significant role in the diagnosis or management of this condition. Type III: isolated leptomeningeal angioma usually no glaucoma Type II: facial angioma without evidence of intracranial disease may have glaucoma Type I: represents the classic syndrome, with both facial and leptomeningeal angiomas may have glaucoma 23, Sturge-Weber syndrome can be classified according to the presence/absence of facial and leptomeningeal angiomas: In about 80% of the cases, there is unihemispheric involvement. The leptomeningeal angiomatosis results in a vascular steal affecting the subjacent cortex and white matter producing localized ischemia. An associated gene mutation has been identified with a nucleotide transition in GNAQ on chromosome 9q21 12. Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component 4,10. These usually begin in the first few years of life and are often associated with developmental delay and hemispheric symptoms including hemiplegia/hemiparesis and hemianopsia.Īpproximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated by retinal detachment, buphthalmos or glaucoma 1. ![]() The most common clinical manifestation is with childhood seizures, present in 71-89% of cases 2, which is often refractory to medical therapy 1. In the majority of cases (~70%) the nevus is unilateral and ipsilateral to the intracranial abnormality. In ~5%, it has intracranial involvement present without associated cutaneous nevus 1,2. This feature is almost always present and usually involves the ophthalmic division (V1) of the trigeminal nerve 3 if this territory is not involved, Sturge-Weber syndrome is unlikely 10. The diagnosis is usually obvious on account of a congenital facial cutaneous capillary malformation (also known as port wine stain or facial nevus flammeus). ![]() Sturge-Weber syndrome is a rare syndrome, with an incidence estimated at 1 in 20,000-50,000 11. ![]()
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