Sturge weber crab syndrome Q85.8

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).

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.

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-synonymoussingle 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 can also be detected in non-syndromic port wine stains.

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.

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).

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