Sturge-Weber syndrome ICD-9 759.6
Are You Confident of the Diagnosis?
What you should be alert for in the history
Symptoms of Sturge-Weber syndrome (SWS) will depend on the location and extent of the lesion and can include visual disturbances, seizures, contralateral hemiparesis or hemiplegia, developmental delays, psychiatric disturbances (emotional/behavioral issues, attention deficits) and migraine headaches.
Characteristic findings on physical examination
Facial capillary malformation(CM) tends to follow the distribution of trigeminal nerve V1 and is often seen on the forehead and upper eyelid (
Nevus flammeus in a V1 distribution in a 4 month old boy with Sturge-Weber syndrome.
The same child, now age 7, after treatment with the pulsed-dye laser. The nevus flammeus is lighter, but still present.
There is an association with Klippel-Trenaunay syndrome, with slow-flow capillary-lymphatic-venous malformation (CLVM), hypertrophy of an affected limb, ocular abnormatilies, the presence of choroidal vascular malformation in the ipsilateral eye and bupthalmos (congenital glaucoma).
Neurologic deficits associated with the location of the capillary-venous malformation (CVM) can be found, including hemiparesis, hemiplegia, epilepsy and developmental delays.
Expected results of diagnostic studies
Features are consistent with CM and CLVM.
Ultrasound can be used in CM evaluation to assess the lesion extent and flow characteristics.
For neurologic evaluation, CT scan with iodinated contrast, MRI with gadolinium enhancement and functional brain imaging can be used. Functional brain imaging (SPECT and PET) allows for greater precision and evaluation of potential consequences.
Earliest studies (MRI, CT scans) should be decided by an ophthalmologist or pediatric neurologist to rule out glaucoma or impingement on the optic tract. The role of SPECT and PET scanning in SWS is still under debate and should be driven by pediatric neurologist.
Who is at Risk for Developing this Disease?
There is an equal gender distribution. The disease occurs sporadically.
What is the Cause of the Disease?
The etiology is unknown. There is possible somatic mutation.
The dysregulation of capillary growth with associated disruption of normal organ function (eye, leptomeninges).
Interestingly, all three tissues involved (skin, eye, leptomeninges) are at least partially derived from embryonic, cephalic, and neural crest cells.
Systemic Implications and Complications
SWS can involve multiple parts of the neurocutaneous axis.
Facial CM complications include visual obstruction and disruption of normal eye function. Therapies include medical/surgical management of glaucoma and surgical/laser-based therapies to reduce the lesion size. Medical management is recommended for any ulceration, bleeding, infection and pain. Laser-based therapies can help improve re-epithelialization of ulcers and general appearance.
Leptomeningeal involvement increases the risk of seizure. Seizures typically can be controlled with oral antiepileptics, but persistent, difficult-to-control seizures are an indication for surgical resection of the offending lesion.
Associated neurological deficits including weakness and developmental delays are best addressed with aid from indicated specialists, including physical therapy, ophthalmology and pediatric neurology.
A multidisciplinary approach is key from dermatology, neurology, ophthalmology, plastic surgery, neurosurgery, psychiatry to social support.
--Flashlamp-pumped pulsed dye laser (FPDL) is currently the best treatment for CMs
--Predictors of good response: young age (esp. less than 1 year old), small size (less than 20cm)
--Glaucoma: medical and/or surgical management
--Seizures: anticonvulsant therapy and surgical resections of leptomeningeal lesions in cases of severe, uncontrolled seizures
--Management of emotional/behavioral issues and attention deficits
--Psychological support for family members
Optimal Therapeutic Approach for this Disease
Pediatric patients with a port wine stain in the distribution of V1 should undergo prompt ophthalmologic examination and MRI scanning.
Those with positive ocular findings require adequate medical/surgical management while those without will need long-term ophthalmologic follow-up as well.
If a CNS lesion is discovered on MRI, one can consider prophylactic anti-seizure therapy or wait to initiate therapy until seizures develop. Those without CNS involvement will need an repeat MRI scan beyond one year of age. If the repeat MRI scan is negative, no further imaging is necessary unless symptoms develop.
A multidisciplinary approach is needed to address the various clinical presentations and complications (see above).
Seizure control is the principal goal of management. This usually requires polypharmacy, and, often, the most severe cases require neurosurgical intervention. Poor seizure control is associated with progressive mental retardation and motor deficits.
Early assessment is key with adequate multidisciplinary input. All patients with facial vascular malformations must be evaluated promptly for ocular and leptomeningeal involvement as described above. Early intervention with FPDL may result in better cosmetic outcomes.
Unusual Clinical Scenarios to Consider in Patient Management
Refractory or difficult-to-control seizures are an indication for evaluation for neurosurgical resection of leptomeningeal lesions.
Development of a thrombocytopenic coagulopathy (Kasabach-Merritt syndrome) should prompt reconsideration of the diagnosis and reexamination of the histopatholgy, taking into consideration other vascular tumors, particularly kaposiform hemangioendothelioma and tufted angioma.
What is the Evidence?
Baker, C, Kelly, R, Bolognia, JL, Jorizzo, JL, Rapini, RP. "Other Vascular Disorders". Dermatology. Mosby-Elsevier. 2008. pp. 1615-1625.(An excellent textbook summary with good clinical and pathologic images on a variety of vascular disorders, including SWS.)
Comi, AM. "Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies". Lymphat Res Biol. vol. 5. 2007. pp. 257-64.(A fairly comprehensive and up-to-date review focusing on the clinical management of SWS.)
Baselga, E. "Sturge-Weber syndrome". Semin Cutan Med Surg. vol. 23. 2004. pp. 87-98.(An adequate review emphasizing the indications for and management of surgical interventions in SWS.)
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