Guidelines Summary

American Academy of Dermatology

In 2021, the American Academy of Dermatology (AAD) released a consensus statement for the management and treatment of port-wine birthmarks (PWBs) in Sturge-Weber syndrome (SWS). The AAD recommends treating PWBs at an early age to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. In the United States, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis.^[115]

The Sturge Weber Foundation

A panel of 13 national peer-recognized experts in neurology, radiology, and ophthalmology with experience treating patients with SWS, supported by the Sturge Weber Foundation, developed clinical recommendations for the management and treatment of SWS. The panel found that children with a high-risk PWB should be referred to a pediatric neurologist and a pediatric ophthalmologist for baseline evaluation and periodic follow-up. In newborns and infants with a high-risk PWB and no history of seizures or neurological symptoms, routine screening for brain involvement is not recommended, but brain imaging can be performed in select cases. Routine follow-up neuroimaging is not recommended in children with SWS and stable neurocognitive symptoms. The treatment of ophthalmologic complications, such as glaucoma, differs based on the age and clinical presentation of the patient.^[116]

Medication

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Media Gallery

A child with Sturge-Weber syndrome with bilateral facial port-wine stain.
Cranial CT scan showing calcifications.
MRI image in Sturge-Weber syndrome.
Single-photon emission computed tomographic scan in Sturge-Weber syndrome.
A child with Sturge-Weber syndrome that primarily affects the distribution of cranial nerve V2-3, with milder involvement of cranial nerve V1. Secondary glaucoma is evident. Ocular melanocytosis involving the sclera of both eyes is an associated finding. Image courtesy of Dr. Lamia Salah Elewa.
Close-up view of the left eye, showing the Ahmed valve implanted in the inferotemporal quadrant after multiple failed filtration procedures induced severe superior conjunctival scarring. Intraocular pressure (IOP) was controlled. Image courtesy of Dr. Lamia Salah Elewa.
T1-weighted, axial magnetic resonance imaging (MRI) scans demonstrate left cerebral hemiatrophy associated with leptomeningeal angiomatosis. Image courtesy of Dr. Lamia Salah Elewa.
Ocular ultrasonogram of the posterior segment demonstrating the diffuse choroidal thickening seen in a diffuse choroidal hemangioma with "tomato-catsup fundus." Image courtesy of Dr. Lamia Salah Elewa.
Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD.
Choroidal hemangioma. Image courtesy of Thomas M. Aaberg, Jr, MD.
Circumscribed hemangioma. Image courtesy of F. Ryan Prall, MD.
Circumscribed hemangioma. Image courtesy of F. Ryan Prall, MD.
B-scan of a choroidal hemangioma showing medium to high internal reflectivity. This is a circumscribed choroidal hemangioma. The patient was not diagnosed with Sturge-Weber Syndrome. Image courtesy of Abdhish R Bhavsar, MD.

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Table 1. Clinical Manifestations of Sturge-Weber Syndrome

Clinical Manifestation	Incidence Rate
Risk of SWS with facial PWB	8%
SWS without facial nevus	13%
Bilateral cerebral involvement	15%
Seizures	72-93%
Hemiparesis	25-56%
Hemianopia	44%
Headaches	44-62%
Developmental delay and intellectual disability	50-75%
Glaucoma	30-71%
Choroidal hemangioma	40%

Table 2. Developmental Morbidity Associated with Seizures in Adults with SWS

	With Seizures (%)	Without Seizures (%)
Developmental delay	45	0
Emotional/behavioral problems	85	58
Need for special education	71	0
Employability	46	78

Table 3. Summary of Work-up Findings in Sturge-Weber Syndrome

Procedure	Findings
CSF analysis	Elevated protein
Skull radiography	Tram-track calcifications
Angiography	Lack of superficial cortical veins Non-filling dural sinuses Abnormal, tortuous vessels
CT scanning	Calcifications, tram-track calcifications Cortical atrophy Abnormal draining veins Enlarged choroid plexus Blood-brain barrier breakdown (during seizures) Contrast enhancement
MRI	Gadolinium enhancement of leptomeningeal angiomas (LAs) Enlarged choroid plexus Sinovenous occlusion Cortical atrophy Accelerated myelination
SPECT scanning	Hyperperfusion, early Hypoperfusion, late
PET scanning	Hypometabolism
Electroencephalography (EEG)	Reduced background activity Polymorphic delta activity Epileptiform features

Table 4. Seizure Control in Sturge-Weber Syndrome

Study	Complete	Partial	Refractory/No Control
Gilly et al^[97]	NA*	NA	37%
Sujanski and Conradi^[41] (adults)	27%	49%	24%
Sujanski and Conradi^{[23, 41]}(all ages)	50%	39%	11%
Pascual-Castroviejo et al^[38]	47%	12%	28%
Oakes^[37]	10%	NA	83%
Sassower et al^[89]	NA	NA	43%
Arzimanoglou and Aicardi^[96]	NA	NA	39%
Erba and Cavazzuti^[39]	50%	NA	NA
Toronto^{[92, 98]}	NA	NA	32%
*NA = not available

Table 5. Surgical Results of Hemispherectomy and Limited Resection from 3 Centers

Center	Hemispherectomy	Seizure Free	Limited resection	Seizure Free	Improved
Toronto	12	11	11	8	2
Paris	5	5	15	7	8
Boston	9	8	6	3	0
Total	26	24	32	18	10
24 of 26 patients with hemispherectomy - Seizure free 28 of 32 patients with limited resection - Seizure free or improved

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Author

Masanori Takeoka, MD Assistant Professor, Department of Neurology, Harvard Medical School; Staff Physician, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital

Masanori Takeoka, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Medical Association, Child Neurology Society, Massachusetts Medical Society

Disclosure: Nothing to disclose.

Coauthor(s)

James J Riviello, Jr, MD George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello, Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Partner received royalty from Up To Date for section editor.

Chief Editor

George I Jallo, MD Professor of Neurosurgery, Pediatrics, and Oncology, Director, Clinical Pediatric Neurosurgery, Department of Neurosurgery, Johns Hopkins University School of Medicine

George I Jallo, MD is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Association, American Society of Pediatric Neurosurgeons

Disclosure: Nothing to disclose.

Acknowledgements

Robert J Baumann, MD Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, and Child Neurology Society