Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome

Abstract

Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc. An early diagnosis is crucial to guarantee an appropriate care, which is best performed in reference centres by multidisciplinary teams. The aim of this study was to develop a multidisciplinary expert consensus for diagnosis, treatment, and follow-up of all disease manifestations, according to the recommendations of the Italian Law on Rare Disease Care.

Results: Through a Delphi consensus methodology, 28 recommendations have been developed concerning (i) dermatological SWS manifestations and related treatment timing and modalities, (ii) neurological referral, diagnosis, pharmacological treatment of neurological signs and symptoms, neurosurgical indications, neurocognitive evaluation and related treatment, psychosocial support and patient follow-up, (iii) diagnosis of ophthalmological manifestations, medical and surgical treatment, and follow-up, (iv) maxillofacial surgical treatment, (v) oral cavity assessment, care and follow-up, and (vi) primary care paediatrician/general practitioner involvement.

Conclusions: The present consensus developed by a multidisciplinary group of experts from Italian reference centres comprises practical recommendations for SWS global management, including currently controversial issues. Specific statements for all disease aspects, from skin manifestations and neurological and ocular signs and symptoms to oral and maxillofacial care, are provided. They can be exploited to uniform clinical practice in reference centres, but also in other hospitals and outpatient settings. Though this consensus has been developed taking primarily into account the Italian National Health System organization and rules on rare disorders, it could be translated also to other countries.

Keywords: Anaesthesia; Capillary malformation; Epilepsy; Glaucoma; Intellectual disability; Medical and surgical treatment; Neuroimaging; Psychosocial care; Pulsed dye laser; Sturge–Weber syndrome.

Fig. 1

Bilateral capillary malformation involving most of the face in an infant with Sturge–Weber syndrome, who developed epilepsy during the first months of life

Fig. 2

Magnetic resonance imaging (MRI) of the brain in a child with Sturge–Weber syndrome. Axial T1 (A), T2 (B), susceptibility- (C), and gadolinium-enhanced T1 (D)-weighted images. Note fronto-parietal atrophy of the left hemisphere with enlargement of adjacent subarachnoid spaces (^); the sharp hypointensity on susceptibility-weighted imaging sequence corresponds to meningeal calcification (*). Pial enhancement over the left frontal and parietal lobes (#), as well as hypertrophied choroid glomus (°) are visible

Fig. 3

Gadolinium-enhanced axial T1-weighted brain MRI image in a child with Sturge–Weber syndrome. A prominent leptomeningeal enhancement of the right temporo-occipital lobes is evident (^); a homolateral choroidal vascular malformation is also visible into the ocular globe (*), compared to contralateral eye

Fig. 4

Optical coherence tomography of a patient with Sturge–Weber syndrome presenting ocular vascular malformation (A) showing a large glaucomatous excavation of the optic nerve and vascular congestion from increased episcleral venous pressure (B)

Fig. 5

Angio-ocular coherence tomography image of a Sturge–Weber patient showing congestion of the deep vascular plexus

Fig. 6

Clinical features of an adolescent affected with Sturge–Weber syndrome presenting a capillary malformation with hemifacial hypertrophy. Note the relationship between the bipupillary plane (black line) that runs parallel to the background and the inclination of the occlusal plane (red line), secondary to upper jaw asymmetry

Fig. 7

X-ray images of two patients affected with Sturge–Weber syndrome. In A the skull antero-posterior view of an adolescent shows asymmetry of the frontal sinus, petromastoid region of the temporal bone, and mandibular inferior margin. B Dental panoramic radiography of an 8-year-old child with a right hemifacial capillary malformation. Note the asymmetry in deciduous tooth replacement between the right and left side