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Synonyms: fourth phacomatosis ('mother-spot') or encephalotrigeminal angiomatosis
This is a neurocutaneous disorder with angiomas involving the leptomeninges and skin of the face.
Sturge-Weber syndrome (SWS) is a phacomatosis, ie one of a group of congenital and hereditary diseases characterised by the development of hamartomas in various tissues - for example, tuberous sclerosis and neurofibromatosis. SWS cases appear randomly without clear evidence of familial inheritance.
- Normally a vascular plexus develops around the cephalic portion of the neural tube.
- This is under ectoderm destined to become facial skin.
- It develops in the sixth week and regresses around the ninth week of gestation.
- The residual vascular tissue forms the angiomata of the leptomeninges, face, and ipsilateral eye.
- Persistence of these embryonic blood vessels also has secondary effects on surrounding brain tissue.
- The secondary effects include:
- Ischaemia (caused by 'vascular steal phenomenon').
- Venous occlusion, thrombosis and infarction.
- Recurrent seizures, status epilepticus, intractable seizures, and recurrent vascular events may aggravate cortical ischaemia.
- This leads to more calcification, gliosis, and atrophy, which in turn increase the chance of seizures and neurological deterioration.
The cutaneous angioma is called a port-wine stain (PWS). These are usually seen in the ophthalmic and maxillary distributions of the trigeminal nerve.
Sturge-Weber syndrome (SWS) is referred to as complete when both central nervous system and facial angiomas are present, and incomplete when only one area is affected. The Roach Scale is used for classification:
- Type I:
- Both facial and leptomeningeal angiomas (LAs).
- May have glaucoma.
- Type II:
- Facial angioma alone.
- May have glaucoma.
- Type III:
- Isolated LA.
- Usually no glaucoma.
- Incidence is 1/50,000 live births.
- Males and females are equally affected.
- There is no racial predilection.
It is important to understand that not all infants with facial naevi have Sturge-Weber syndrome (SWS). Incidence of SWS has been reported to be 8-33% in those with a port-wine stain (PWS).
- Facial naevus is present at birth:
- It always involves the upper face and eyelid and tends to be unilateral.
- It may also appear on the lower face, trunk and oropharyngeal mucosa.
- Macular lesions can be progressive:
- They may be a light pink colour initially and then progress to a dark red or purple nodular lesion.
- The ipsilateral eye commonly shows buphthalmos and glaucoma.
- There may be macrocephaly and choroidal haemangiomata.
- Focal tonic-clonic seizures typically appear in the first year on the opposite side to the naevus.
- The incidence of epilepsy in patients with SWS is 75-90%.
- The seizures may become generalised and evolve into other types, such as drop attacks, myoclonic or infantile spasms.
- The seizures are often very frequent, and prolonged seizures may occur.
- In many cases seizures are associated with slowly progressive hemiparesis.
- The incidence is approximately 33%.
- The severity of weakness is closely related to the severity of the seizures.
- As the child grows the weakness may become more severe and permanent.
- The seizures may be resistant to drug treatment.
- Developmental delay and mental retardation are related to the degree of neurological involvement. They occur in 50-60% of patients and are more likely in patients with bilateral involvement.
- Headaches occur secondary to vascular disease.
- The symptoms are similar to a migraine headache.
The maximum extent of disease may require a combination of structural and functional imaging, as each investigation may demonstrate abnormalities not detected by the other. Information about the vasculature as well as lesion depth is possible with use of photoacoustic imaging (PAI).
- This is used for evaluation of seizures and for localisation of seizure activity in refractory seizures when epilepsy surgery is considered.
- Typical findings include reduced background activity, polymorphic delta activity and epileptiform features.
- Skull X-ray:
- This shows intracranial calcification in the occipitoparietal region.
- Typically it has a serpentine appearance.
- This is often a late finding and may not be present initially.
- CT scan:
- This may show calcifications in infants and even in neonates.
- Other findings include brain atrophy, ipsilateral choroid plexus enlargement, abnormal draining veins, and a breakdown of the blood-brain barrier with seizures.
- Doppler ultrasound:
- High resistance patterns that are typical of venous stasis and may contribute to chronic hypoperfusion of brain tissue have been picked up by this method.
Cosmetic camouflage creams can be used to help to conceal the port-wine stain (PWS). It is more effective than over-the-counter (OTC) foundation/make-up because it is both lightweight and available in a wide range of colours.
Carbamazepine is an anticonvulsant effective for treatment of complex partial seizures:
- The major mechanism of action is reduction of sustained high-frequency repetitive neural firing.
- The chance of achieving seizure control with medical therapy in Sturge-Weber syndrome (SWS) varies. There is a wide range of reported seizure control in studies, with no overall consensus.
- The age of seizure onset may be a prognostic sign for ultimate seizure control. Early onset is associated with refractory seizures and developmental delay.
- Pulsed dye laser (PDL) treatment is used for port-wine stain (PWS):
- This laser treatment is particularly effective in improving facial PWS in infants ≤6 months of age.
- This is often recommended for lesions near the eyes or orifices, or if the lesions bleed, ulcerate or become infected.
- They have low complication rates.
- Significant redarkening of port-wine stains has been noted at 10-year follow-up.
- External laser treatment of vascular abnormalities may not be effective if they are deep, because the laser beam does not penetrate far beneath the skin.
- Intralesional photocoagulation is a laser treatment that involves inserting a laser fibre into the lesion to deliver the light deep within it.
- Topical local anaesthetics are effective in postoperative pain control.
- Combined use of PDL therapy and topical imiquimod may produce superior results to PDL alone.
- Surgical options are available for focal seizures refractory to medical treatment:
- Surgical procedures include focal cortical resection, hemispherectomy, corpus callosotomy and recently, vagal nerve stimulation (VNS).
- Criteria for medical intractability should be fulfilled before considering surgery.
Although, apparently neurologically normal in the first year of life, over half of cases are found to have severe learning disability in later childhood. This is probably due to prolonged generalised seizures and use of anticonvulsants.
Further reading & references
- Antaya RJ, Capillary Malformation, Medscape, Sep 2009
- Mahendran R, Sheehan-Dare RA; Survey of the practices of laser users in the UK in the treatment of port wine stains. J Dermatolog Treat. 2004 Apr;15(2):112-7.
- Sturge-Weber UK
- Sturge-Weber Syndrome, Online Mendelian Inheritance in Man (OMIM)
- Takeoka M, Riviello JJ; Sturge-Weber Syndrome, eMedicine, Jan 2010
- Tallman B, Tan OT, Morelli JG, et al; Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics. 1991 Mar;87(3):323-7.
- Nelson Textbook of Pediatrics. 16th Edition. Behrman RE et al. WB Saunder Co. 2000 p.1838
- Bebin EM, Gomez MR; Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol. 1988 Jul;3(3):181-4.
- Burrows PE, Laor T, Paltiel H, et al; Diagnostic imaging in the evaluation of vascular birthmarks. Dermatol Clin. 1998 Jul;16(3):455-88.
- Kolkman RG, Mulder MJ, Glade CP, et al; Photoacoustic imaging of port-wine stains. Lasers Surg Med. 2008 Mar;40(3):178-82.
- Jordan LC, Wityk RJ, Dowling MM, et al; Transcranial Doppler ultrasound in children with sturge-weber syndrome. J Child Neurol. 2008 Feb;23(2):137-43. Epub 2007 Dec 3.
- British Association for Skin Camouflage
- Leaute-Labreze C, Boralevi F, Pedespan JM, et al; Pulsed dye laser for Sturge-Weber syndrome. Arch Dis Child. 2002 Nov;87(5):434-5.
- Chapas AM, Eickhorst K, Geronemus RG; Efficacy of early treatment of facial port wine stains in newborns: a review of 49 cases. Lasers Surg Med. 2007 Aug;39(7):563-8.
- Stier MF, Glick SA, Hirsch RJ; Laser treatment of pediatric vascular lesions: Port wine stains and hemangiomas. J Am Acad Dermatol. 2008 Feb;58(2):261-85.
- Huikeshoven M, Koster PH, de Borgie CA, et al; Redarkening of port-wine stains 10 years after pulsed-dye-laser treatment. N Engl J Med. 2007 Mar 22;356(12):1235-40.
- Intralesional photocoagulation of subcutaneous congenital vascular disorders, NICE (2004)
- McCafferty DF, Woolfson AD, Handley J, et al; Effect of percutaneous local anaesthetics on pain reduction during pulse dye laser treatment of portwine stains. Br J Anaesth. 1997 Mar;78(3):286-9.
- Chang CJ, Hsiao YC, Mihm MC Jr, et al; Pilot study examining the combined use of pulsed dye laser and topical Imiquimod versus laser alone for treatment of port wine stain birthmarks. Lasers Surg Med. 2008 Nov;40(9):605-10.
- Hoffman HJ; Benefits of early surgery in Sturge-Weber Syndrome in: Tuxhorn I, Holthausen H, Boenigk H, eds. Paediatric Epilepsy syndromes and their surgical treatment. London: John Libbey and Company. 1997; 364-370.
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|Original Author: Dr Hayley Willacy||Current Version: Dr Hayley Willacy|
|Last Checked: 16/07/2010||Document ID: 2812 Version: 22||© EMIS|