Sturge weber crab syndrome Q85.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 18.12.2020

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Synonym(s)

angioma cutaneo-cerebral; angiomatosis encephalo-cutanea; angiomatosis encephalo-oculo-cutanea; angiomatosis encephalotrigeminale; angiomatosis encephalotrigeminalis; angiomatosis oculo-cutanea; Brain Trigeminal Angiomatosis Syndrome; Brushfield-Wyatt Syndrome; craniofacial angiomatosis with cerebral calcification; cutaneous cerebral angioma; ectoneurodermal hamartoma (Wohlwill); encephaloculo-cutaneous angiomatosis; encephalo-cutaneous angiomatosis; encephalotrigeminal angiomatosis; fourth phacomatosis; Hamartoma ektoneurodermal; Krabbe Syndrome; Krabbe Syndrome III; neuroangiomatosis encephalofacialis; Potash Syndrome; Sturge disease; Sturge-Weber-Dimitri Syndrome; Weber-Dimitri Syndrome

History
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Luschka, 1854; Sturge, 1879; Weber, 1922; Krabbe, 1934

Definition
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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).

Occurrence/Epidemiology
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Incidence: approx. 1-2/100.000 inhabitants.

Etiopathogenesis
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Genetic defect (somatic mosaic mutation in the GNAQ gene on chromosome 9q21).

Clinical features
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  • 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.

Diagnosis
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Neurological and ophthalmological examination (especially measurement of intraocular pressure), X-ray of the skull (characteristic, double contoured, tortuous calcifications), computer tomogram and possibly magnetic resonance tomogram of the skull.

Therapy
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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/forecast
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In old age formation of vascular nodules in the area of the nevus flammeus.

Literature
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  1. Altuna JC et al (1999) Latanoprost in glaucoma associated with Sturge-Weber syndrome: benefits and side effects. J Glaucoma 8:199-203.
  2. 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
  3. Comi AM (2003) Pathophysiology of Sturge-Weber syndrome. J Child Neurol 18: 509-516
  4. Dimitri V (1923) Tumor cerebral congénito (angioma cavernosum). Rev Ass Med Argent 36: 63
  5. Enjolras O, Riche MC, Merland JJ (1985) Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 76: 48-51
  6. Fritsch G, Sacher M, Nissen Th (1986) Clinic and course of Sturge-Weber syndrome in childhood. Monthly paediatric care 134: 242-245
  7. Henkes H, Bittner R, Huber G et al (1991) The Sturge Weber disease. Imaging diagnostics in relation to neuropathology. Radiology 31: 289-296
  8. Kalischer S (1901) A case of telangiectasia (angioma) of the face and soft meninges. Arch Psych Nervenkr (Berlin) 34: 171-180
  9. 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
  10. Luschka H (1854) Cavernous hematoma of the brain. Virchows Arch Path Anat 6: 458-470
  11. Schirmer R (1860) A case of Telangiectasia. Graefes Arch Ophthalmol 7: 119-121
  12. 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
  13. 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
  14. 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

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Last updated on: 18.12.2020