Current Therapeutic Options in Sturge-Weber Syndrome
Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid “angioma” of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments.
Sturge-Weber syndrome (SWS) is a sporadically occurring neurocutaneous syndrome characterized by port-wine stain over the face, ocular abnormalities (glaucoma and choroidal hemangioma), and leptomeningeal angiomas. It is usually diagnosed in infancy, but it may occasionally present in adulthood with seizures or stroke-like episodes. Here, we report a 46-year-old male patient, having SWS coexisting with moyamoya disease, attending our hospital due to sudden loss of consciousness. We also searched PubMed (from its earliest date to August 2014) for case reports mentioning that SWS presents in adulthood. We identified 31 patie...
Sturge-Weber Syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in GNAQ.1 SWS brain involvement causes seizures, stroke-like episodes and/or neurological deficits such as hemiparesis and intellectual disability. Seventy-five percent of infants with SWS will develop seizures within the first year of life.2 Those with more severe epilepsy experience greater cognitive deficits and intellectual disability.3 There is ictal single-photon emission computed tomography evidence that, in SWS, the seizures themselves may contribute to the brain injury due to an abnormal hemodynamic response.
Introduction: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome that has a heterogeneous spectrum of manifestations, characterized by facial port-wine stain (PWS) within the trigeminal nerve distribution, ipsilateral leptomeningeal angiomatosis, glaucoma, seizures, stroke-like episodes, hemiparesis, and mental retardation. The diagnosis is based on clinical presentation and cranial imaging features. Treatment is a challenge and multidisciplinary approach is required to control ophthalmic, neurologic and dermatologic manifestations.
This study aims to identify early pathophysiological changes that exist prior to the development of clinical symptoms and evaluate if the Apparent Diffusion Coefficient (ADC) map is a candidate early biomarker of seizure risk in patients with SWS.
Conclusions:This is an unusual presentation of SWS. Commonly, patients present at early age with seizure and unlike our case patient presented with SAH and stroke like symptoms.Disclosure: Dr. Lee has nothing to disclose. Dr. E-Ghanmh has nothing to disclose. Dr. Said Said has nothing to disclose. Dr. Wu has nothing to disclose. Dr. Muhammad has nothing to disclose.
Conclusions:SWS Type 3 consists of leptomeningeal angioma only, which can make the diagnosis challenging. Patients with SWS Type 3 may present in adulthood with primary neurologic symptoms of seizure, headache, behavioral problems or stroke-like symptoms. MRI brain remains the investigation of choice. Accurate diagnosis is essential in order to provide appropriate treatment, which includes aspirin and anti-epileptic agents, and avoid other unnecessary investigations.Disclosure: Dr. Lowe has nothing to disclose. Dr. Bhan has nothing to disclose. Dr. Rai, MD has nothing to disclose.
Brielle plays near her home in Rhode Island. Two-year-old Brielle Coutu loves listening to music, dancing and eating enough cheese that her mother, Heather, often wonders aloud, “Are you a mouse?” Brielle loves to play outside and is usually a chatty, happy-go-lucky little girl. But, sometimes, she can be overwhelmed by the excitement of gathering with family and friends. “We think she has some sensory sensitivities related to her Sturge-Weber syndrome,” says Heather. Brielle was born with what’s known as a port-wine birthmark on her face. It is aptly named for its dark reddish ...
Sturge-Weber syndrome (SWS) results in leptomeningeal vascular malformations, medically-refractory epilepsy, stroke(s), and cognitive impairments. Cannabidiol (CBD), a cannabinoid without psychoactive properties, has been demonstrated in preclinical models to possibly have anticonvulsant, anti-oxidant, and neuroprotective actions.
Condition: Sturge-Weber Syndrome Intervention: Drug: Sirolimus Sponsors: Anne Comi, MD; Children's Hospital Medical Center, Cincinnati; Pfizer; National Institutes of Health (NIH); Faneca 66 Foundation; National Institute of Neurological Disorders and Stroke (NINDS) Recruiting - verified February 2017