"five different diseases are named after Dr Weber! 19"
"Patients with the rarer GNA11 mutations tend to have paler more reticulated capillary malformations, with milder neurological features but additional extra-cutaneous features (e.g. renal abnormalities, hypertension and limb hypotrophy or hypertrophy) 24."
"Patients with the rarer GNA11 mutations tend to have paler more reticulated capillary malformations, with milder neurological features but additional extra-cutaneous features (e.g. renal abnormalities, hypertension and limb hypotrophy or hypertrophy) 24."
"Todd paresis following seizures may characteristically be very prolonged 26"
"Frederick Parkes Weber: English dermatologist (1863-1962) 17,19"
"Vincente Dimitri: Austrian dermatologist (1885-1955) 18"
"Rudolf Schirmer: German ophthalmologist (1831-1896) 20"
"Siegfried Kalischer: German neuropathologist (1862-1954) 20,21"
"According to Roach et al. 23, Sturge-Weber syndrome can be classified according to the presence/absence of facial and leptomeningeal angiomas:"
"Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component 4,10. However, somatic activating mosaic mutations in the GNAQ gene on chromosome 9q21 are identified in ~90% of patients 12,26,27. Mutations in GNA11 have also been identified in a minority of patients with slight differences in clinical features 24."
"type I: represents the classic syndrome, with both facial and leptomeningeal angiomas; may have glaucoma"
"type II: facial angioma without evidence of intracranial disease; may have glaucoma"
"MR perfusion: impaired venous drainage 27"
"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. The finding usually becomes evident between 2-7 years of age 2,26."
"MR spectroscopy: decreased NAA 6"
"TORCH infection"
"PHACE syndrome 7"
"Sturge-Weber syndrome was first described by Sturge in 1879 who argued that there was a direct link between the intracranial haemangioma and the clinical presentation, although this was not accepted by his medical peers. It took until 1901 for Kalischer to provide the pathological confirmation that the pial angioma caused the neurological sequelae 20."
"William Allen Sturge: English physician (1850-1919) 16,18,20"
"Frederick Parkes Weber: English dermatologist (1863-1962) 17,19"
"Vincente Dimitri: Austrian dermatologist (1885-1955) 18"
"Rudolf Schirmer: German ophthalmologist (1831-1896) 20"
"Siegfried Kalischer: German neuropathologist (1862-1954) 20,21"
Expected headings
"Embryology"
"Associations"
"PET"
"Sturge-Weber syndrome is rare, with an incidence estimated at 1 in 20,000-50,000 11. It is the third most common phakomatosis, after neurofibromatosis type 1 and tuberous sclerosis complex 26. There is no gender predisposition 26."
"Ocular manifestations are also common. Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated by retinal detachment, buphthalmos or glaucoma 1,26."
"type I: represents the classic syndrome, with both facial and leptomeningeal angiomas; may have glaucoma"
"type II: facial angioma without evidence of intracranial disease; may have glaucoma"
"type III: isolated leptomeningeal angioma; usually no glaucoma"
"History and etymology"