Sturge-Weber syndrome: an update for the pediatrician

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations. SWS usually presents as a facial port-wine birthmark, with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities. The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma. SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways. We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices, the latest pathophysiological insights, and the potential novel therapeutic avenues they provide.

A narrative, non-systematic review of the literature was conducted, combining expert opinion with a balanced review of the available literature. A search of PubMed, Google Scholar and Embase was conducted, using keywords "Sturge-Weber Syndrome" OR "SWS", "Capillary malformations", "G protein subunit alpha 11" OR "G protein subunit alpha Q".

One of the hallmark features of SWS is the presence of a port-wine birthmark at birth, and forehead involvement is most indicative for SWS. The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma. Glaucoma presents in either in infancy (0-3 years of age) or later in life. Neurological complications are common in SWS, occurring in about 70%-80% of patients, with seizures being the most common one. SWS significantly impacts the quality of life for patients and their families, and requires a multidisciplinary approach for diagnosis and treatment. Currently, no disease-modifying therapies exist, and treatment is mostly focused on symptoms or complications as they arise.  CONCLUSIONS: SWS remains a complex and heterogeneous disorder. Further research is needed to optimize diagnostic and therapeutic strategies, and to translate insights from molecular pathogenesis to clinical practice.