Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital disorder that affects the development of blood vessels. The hallmark of Sturge-Weber syndrome is a port-wine stain birthmark, a dark red or purple mark that usually appears on one side of the face. This birthmark is caused by an overgrowth of blood vessels in the skin and is typically present at birth or in early infancy. The port-wine stain birthmark may involve the forehead, eyelids, and upper cheek, and its size and extent can vary widely.
Neurological abnormalities are also common in Sturge-Weber syndrome and can vary in severity. They may include seizures, developmental delays, intellectual disability, muscle weakness or paralysis on one side of the body (hemiparesis), vision loss, and glaucoma. Seizures are often the first symptom to appear, typically starting in infancy or early childhood.
Eye abnormalities in Sturge-Weber syndrome can include glaucoma, which is increased pressure in the eye that can cause damage to the optic nerve and result in vision loss. Glaucoma associated with Sturge-Weber syndrome usually affects only one eye.
Clinical Trial
In a clinical trial, ten patients with SWS and controlled seizures but cognitive impairments were given oral cannabidiol (also known as Epidiolex) for six months, and their outcomes were monitored. The patients took cannabidiol orally at 5 to 20 mg/kg/day doses. The effects of the drug were assessed using various measures, including SWS neuro score, port-wine birthmark score, quality of life, and adverse events, which were recorded every four to 12 weeks. Neuropsychologic, psychiatric, and motor assessments were conducted at the beginning of the study and after six months of treatment.
Findings
Cannabidiol was generally well tolerated, with only mild to moderate side effects reported by six patients who continued the treatment. Only one patient withdrew from the study due to moderate side effects. No seizures were reported during the study period.
Significant improvements were observed in SWS neuro score, patient-reported quality of life, anxiety and emotional regulation, and bimanual ability use. However, the baseline migraine quality of life score was already high in these patients and remained high throughout the study. Neuropsychologic and other quality of life and motor outcomes remained stable, with some improvements noted in some patients.
Conclusion
This study suggests cannabidiol may positively affect various outcomes in patients with SWS. Still, more research is needed to understand its potential benefits and confirm these findings. It is essential to consult with healthcare professionals before starting any new treatment for Sturge-Weber syndrome or any other medical condition.
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