HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Congenital complex vascular malformation (see also neurocutaneous syndrome) with the triad:
- capillary malformation (nevus flammeus) in the area of the ophthalmic nerve
- hemangioma of the uvea (development of glaucoma with danger of blindness)
- calcifying hemangioma of the leptomeninx with pathological changes of the underlying cerebral cortex (neurological symptoms).
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Occurrence/EpidemiologyThis section has been translated automatically.
Incidence: approx. 1-2/100.000 inhabitants.
EtiopathogenesisThis section has been translated automatically.
Genetic defect (somatic mosaic mutation in the GNAQ gene on chromosome 9q21).
Clinical featuresThis section has been translated automatically.
- Capillary malformation(Naevus flammeus) of one half of the face, often only in the area of the 1st trigeminal branch. Less frequently, the entire half of the head and the oral mucosa (with gingival hyperplasia) are affected.
- Development of glaucoma mostly in early childhood. Multiple neurological symptoms are possible: spastic hemiparesis, focal epileptic seizures, homonymous hemianopsia, migraine.
- Full expression of the syndrome is present in only about 50% of cases. If the eyes are not involved, the syndrome is called angiomatosis encephalo-cutanea, if the CNS is not involved, it is called angiomatosis oculo-cutanea.
DiagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
Treatment of skin changes with laser (argon, pulsed dye laser).
The clinical efficiency of Latanoprost on glaucoma associated with vascular malformation is unsatisfactory (Altuna JC et al.1999).
Progression/forecastThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Altuna JC et al (1999) Latanoprost in glaucoma associated with Sturge-Weber syndrome: benefits and side effects. J Glaucoma 8:199-203.
- Carrasco L et al (2003) Acral arteriovenous tumor developed within a nevus flammeus in a patient with Sturge-Weber syndrome. At J Dermatopathol 25: 341-345
- Comi AM (2003) Pathophysiology of Sturge-Weber syndrome. J Child Neurol 18: 509-516
- Dimitri V (1923) Tumor cerebral congénito (angioma cavernosum). Rev Ass Med Argent 36: 63
- Enjolras O, Riche MC, Merland JJ (1985) Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 76: 48-51
- Fritsch G, Sacher M, Nissen Th (1986) Clinic and course of Sturge-Weber syndrome in childhood. Monthly paediatric care 134: 242-245
- Henkes H, Bittner R, Huber G et al (1991) The Sturge Weber disease. Imaging diagnostics in relation to neuropathology. Radiology 31: 289-296
- Kalischer S (1901) A case of telangiectasia (angioma) of the face and soft meninges. Arch Psych Nervenkr (Berlin) 34: 171-180
- Crab KH (1934) Facial and meningeal angiomatosis associated with calcification of the brain cortex. A clinical and an anatomopathological contribution. Arch Neurol Psych (Chicago) 32: 737-755
- Luschka H (1854) Cavernous hematoma of the brain. Virchows Arch Path Anat 6: 458-470
- Schirmer R (1860) A case of Telangiectasia. Graefes Arch Ophthalmol 7: 119-121
- Sturge WA (1879) A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain. Clin Soc Transact 12: 162
- Tallman B, Tan OT, Morelli JG et al (1991) Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics 87: 323-327
- Weber FP (1922) Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms. J Neurol Psychopath (London) 37: 301-311
Incoming links (23)Angioma, cutaneous cerebral; Angiomatosis encephalo-cutanea; Angiomatosis encephalo-oculo-cutanea; Angiomatosis, encephalotrigeminal; Angiomatosis encephalotrigeminalis; Angiomatosis oculo-cutanea; Brain trigeminal angiomatosis syndrome; Brushfield-wyatt syndrome; Encephaloculo-cutaneous angiomatosis; Encephalo-cutaneous angiomatosis; ... Show all
Outgoing links (4)Asymmetrical nevus flammeus (overview); Gingival hyperplasia; Laser; Malformation vascular (overview);
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