Sturge–Weber syndrome or Sturge–Weber–Krabbe disease, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors).
Sturge-Weber syndrome (SWS) is a neurological disorder marked by a distinctive port-wine stain on the forehead, scalp, or around the eye. This stain is a birthmark caused by an overabundance of ...
Most cases of Sturge-Weber are not life-threatening. The patient's quality of life depends on how well the symptoms (such as seizures) can be prevented or treated. Diagnosing Sturge-Weber disease. The diagnosis of Sturge-Weber is made with a physical examination and diagnostic tests.
General Discussion Summary. Sturge-Weber syndrome (SWS) is a rare disorder characterized by the association of a facial birthmark called a port-wine birthmark, neurological abnormalities, and eye abnormalities such as glaucoma.
Sturge-Weber Syndrome. Sturge-Weber syndrome (SWS) is a neurocutaneous disorder (one that affects the brain and skin) identifiable by the “port-wine stain” (known as an angioma) on the forehead area around the eye. Children with SWS may experience seizures, weakness on one side of the body (hemiparesis), developmental delays and increased ...
First a birthmark, then a rare-disease diagnosis. Posted on 01 Mar 2017 28 Mar 2017 by Kat J. McAlpine. Posted in Diseases & Conditions, Our Patients’ Stories. More On: Dr. Anna Pinto, epilepsy, neurology, rare disease, seizures, Sturge-Weber syndrome, Sturge-Weber Syndrome Clinic.
Sturge Weber Syndrome is caused by a mutation in the GNAQ gene. Characterized by a birthmark of the face called “port-wine stain,” glaucoma, seizures, intellectual disabilities, and cerebral malformation called “leptomeningeal angioma.” Some children may suffer from headaches or migraines.
Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain.Port-wine birthmarks are caused by enlarged blood vessels right underneath the skin.
Sturge-Weber syndrome (SWS) is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
The mainstay of neurologic treatment is the use of anticonvulsants to reduce seizures. Epilepsy in Sturge-Weber syndrome can be difficult to control, occurring in clusters of seizures and episodes of status epilepticus. 33 Although generalized seizures are seen, most seizures in patients with Sturge-Weber syndrome are focal motor with or ...