Sturge-Weber Phakomatosis, also known as Sturge-Weber syndrome (SWS), is a rare congenital disorder characterized by abnormalities affecting the skin, eyes, and central nervous system. It is considered a phakomatosis, a group of conditions where benign tumors or malformations develop in multiple organs.
The syndrome is primarily characterized by a facial birthmark called a port-wine stain, which is caused by abnormal blood vessels supplying an area of the face. This birthmark is typically present at birth and may darken or thicken over time. In addition to the facial birthmark, individuals with Sturge-Weber Phakomatosis may also have blood vessel abnormalities in the brain, known as leptomeningeal angiomas. These can result in various neurological symptoms, including seizures, developmental delays, and intellectual disabilities.
Sturge-Weber Phakomatosis is a genetic disorder caused by a spontaneous gene mutation rather than inherited from parents. It is believed to occur due to a somatic mutation during the early stages of embryo development. It affects both males and females equally, and its severity can vary widely among affected individuals.
Treatment for Sturge-Weber Phakomatosis focuses on managing the symptoms and associated complications. It may involve the use of anticonvulsant medications to control seizures, cosmetic interventions to address the appearance of the birthmark, and early intervention programs to support developmental delays. Additional treatments may be required to manage other associated conditions, such as glaucoma or high-pressure buildup within the eye.
Due to the complex nature of this disorder, individuals with Sturge-Weber Phakomatosis often require a multidisciplinary medical team, including neurologists, dermatologists, ophthalmologists, and developmental pediatricians
