Sturge weber crab syndrome Q85.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 21.04.2022

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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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Sturge-Weber-Krabbe syndrome, also known as encephalofacial angiomatosis, is a congenital neurocutaneous disorder (see also Neurocutaneous Syndromes) that occurs as a sporadic congenital disorder; it is characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve and is associated with venous-capillary abnormalities of the leptomeninges and eye.

The following triad characterizes the syndrome:

  • capillary malformation (nevus flammeus) in the area of the ophthalmic nerve (nerve V1)
  • vascular malformation of the uvea (glaucoma development with risk of blindness)
  • calcifying hemangiomas of the leptomeninx with pathological changes of the underlying cerebral cortex (neurological symptoms - seizure disorder).

Occurrence/Epidemiology
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Incidence: about 1-2/100,000 population.

A child born with a facial port-wine stain has about a 6% chance of having Sturge-Weber syndrome (Piram M et al. 2012). This risk increases to 26% if the port-wine stain is located in the distribution of the ophthalmic branch of the trigeminal nerve (Ch'ng S et al 2008). Port wine stains usually have an underlying soft tissue and bone overgrowth that can be mild or massive (Greene AK et al. 2009).

The somatic substitutions in GNAQ encoding p.Gln209Leu and p.Arg183Gln are also found in patients with uveal melanoma (Shirley MD et al. 2013). The more common p.Gln209Leu has been shown to overactivate the mitogen-activated protein kinase (MAPK) signaling pathway (Van Raamsdonk CD et al. 2009). However, the mutations lead to different activities on downstream signaling pathways.

Etiopathogenesis
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Sturge-Weber syndrome (as well as apparently non-syndromic port wine stains are caused by a somatic activating mutation in GNAQ gene. In Sturge-Weber-Krabbe syndrome, a non-synonymous single nucleotide variant -c.548G→A, p.Arg183Gln- (non-synonymous single nucleotide polymorphisms are SNPs that result in an amino acid change at the codon of interest) in GNAQ can be detected in samples of affected tissue (including lesional brain samples) in nearly 90% of affected individuals (Shirley MD et al. 2013). These single nucleotide polymorphisms in the GNAQ gene canalso be detected in non-syndromic port wine stains.

Clinical features
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Capillary malformation(nevus flammeus, also called port wine stains) of one half of the face, often only in the area of spread of the 1st trigeminal branch. More rarely, the entire half of the head and the oral mucosa (with gingival hyperplasia) are affected.

Development of glaucoma usually in early childhood. Multiple neurological symptoms are possible: spastic hemiparesis, focal epileptic seizures, homonymous hemianopsia, migraine.

Full expression of the syndrome is present only in about 50% of cases. In the absence of ocular involvement, it is also called angiomatosis encephalo-cutanea, and in the absence of CNS involvement, 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 the skin lesions with the laser (argon, pulsed dye laser).

The clinical efficiency of latanoprost on glaucoma associated with vascular malformation has to be considered 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. Am J Dermatopathol 25: 341-345
  3. Ch'ng S et al (2008) Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement. J Plast Reconstr Aesthet Surg 61:889-893.
  4. Comi AM (2003) Pathophysiology of Sturge-Weber syndrome. J Child Neurol 18: 509-516.
  5. Dimitri V (1923) Tumor cerebral congénito (angioma cavernosum). Rev Ass Med Argent 36: 63
  6. Enjolras O, Riche MC, Merland JJ (1985) Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 76: 48-51
  7. Fritsch G, Sacher M, Nissen Th (1986) Clinic and course of Sturge-Weber syndrome in childhood. Monatsschr Pediatrics 134: 242-245
  8. Greene AK et al (2009) Sturge-Weber syndrome: soft-tissue and skeletal overgrowth. J Craniofac Surg 20 (Suppl 1):617-621.Piram M et al. (2012) Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol 29:32-37.
  9. Henkes H, Bittner R, Huber G et al (1991) Sturge-Weber disease. Imaging diagnosis in relation to neuropathology. Radiology 31: 289-296
  10. Kalischer S (1901) A case of telangiectasia (angioma) of the face and soft meninges. Arch Psych Nervenkr (Berlin) 34: 171-180
  11. Krabbe KH (1934) Facial and meningeal angiomatosis associated with calcification of the brain cortex. A clinical and an anatomopathologic contribution. Arch Neurol Psych (Chicago) 32: 737-755
  12. Luschka H (1854) Kavernous hematoma of the brain. Virchow's Arch Path Anat 6: 458-470.
  13. Piram M et al (2012) Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol 29:32-37.
  14. Schirmer R (1860) A case of telangiectasia. Graefes Arch Ophtalmol 7: 119-121.
  15. Shirley MD et al (2013)Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ. N Engl J Med 368: 1971-1979.
  16. 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
  17. 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
  18. Van Raamsdonk CD et al (2009) Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 457:599-602.
  19. 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: 21.04.2022