Sturge-Weber syndrome (SWS) is an example of a neuro-ectodermal (neurocutaneous) disease characterized by facial port wine nevus (angiomas), on one side of the face, affecting the area innervated by the first sensory branch of the trigeminal nerve, the retina of the eye, and the ipsilateral leptomeninges. Seizures are the usual neurological manifestation in up to 80% of patients. SWS is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the nevus. Convulsions usually happen on the side of the body opposite the nevus and vary in severity. Some children with SWS may have developmental delays and mental retardation. Both sexes are affected equally. Laser treatment may be used to lighten or remove the nevus and anticonvulsant medications may be used to control seizures.
SWS is caused by residual embryonal blood vessels and their secondary effects on surrounding brain tissue. A study found abnormal gene expression of fibronectin in SWS brain tissue and SWS port-wine skin fibroblasts. Another study found chromosomal abnormalities in two cultures derived from affected tissue compared to cultures from unaffected tissue of the same two individuals suggesting the presence of somatic mutation or chromosomal instability. Somatic mosaic mutation in the GNAQ gene have been identified in a few cases of SWS.
Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, one child was born with Sturge-Weber Syndrome.
Alorainy (2006) reviewed and analyzed the MRI studies on 808 pediatric patients (aged 3 days to 15 years) over a 3-year period. A total of 114 congenital cerebral malformations were identified in 86 of these patients via MRI. Four patients were identified Sturge-Weber syndrome.
Gururaj et al. (2000) identified a case of Sturge-Weber syndrome without facial nevus in an Arab girl born to consanguineous parents. The diagnosis of SWS is generally made on clinical grounds, when there is an association of facial nevus and seizures. In the case of this Arab girl, no such facial nevus was observed, and thus the diagnosis relied on radiological examination (CT, EEG, MRA, and MRI) that showed deep venous drainage into the trigonum. From the age of 2 years, she had repeated episodes of brief, generalized tonic clinic seizures with fever. At 7 years of age, she started experiencing afebrile seizures with episodes of vomiting, loss of consciousness, tonic spasms of the limbs preceded by blurred vision and headache. At the age of 12 years, she was admitted with prolonged status epilepticus. Following a treatment with carbamazepine she was free from seizures and had no neurological deficit.