Rhode Island toddler suffers from Sturge-Weber syndrome
Brielle Coutu, two, from Coventry, Rhode Island, suffers from a rare syndrome characterized by a large birthmark across the face, multiple sets of seizures and glaucoma.
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with SWS are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), frequency of suicidal ideation and attempts in youth and adults with SWS is unknown.
Patients with Sturge-Weber syndrome (SWS) are susceptible to ocular complications, and among them, glaucoma is one of the most frequent forms. In current study, we utilized multiplex human cytokine antibody array to simultaneously measure the concentration of 40 cytokines in aqueous humor (AH) of patients with SWS-induced glaucoma (SG), or from patients with senile cataract as controls. Compared with the control group, levels of interleukin (IL)-12p40, macrophage inflammatory protein (MIP)-1d, tumor necrosis factor-alpha (TNF-a), IL-5, IL-7, interleukin-6 receptor (IL-6R), and B lymphocyte chemoattractant (BLC) in AH were ...
PMID: 31433382 [PubMed - as supplied by publisher]
A 12-year boy presented with decreased vision in the right eye. The uncorrected visual acuity was 6/12, which improved to 6/6 after myopic refractive correction. Examination revealed port-wine stain on the right side of the face and dilated episcleral blood vessels in the right eye suggestive of episcleral hemangioma (Figure 1A and B). Intraocular pressure was 26.0 and 14.0 mm Hg in the right and left eye respectively. There was a diffuse choroidal hemangioma, and the optic nerve head was cupped (cup-disc ratio 0.8), suggestive of glaucoma. The patient did not have any history of seizures, and MRI brain did not rev...
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...
We present an unusual case of Sturge-Weber syndrome whose main clinical manifestations were nevus flammeus, seizures, glaucoma, and acoria. To our knowledge, the combination of Sturge-Weber syndrome and acoria has not been previously reported. PMID: 30295080 [PubMed - as supplied by publisher]
Publication date: August 2018Source: Journal of American Association for Pediatric Ophthalmology and Strabismus, Volume 22, Issue 4Author(s): Helen H. Yeung, David S. Walton
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.
To report the surgical results of goniosurgery (goniotomy or trabeculotomy) for patients with Sturge-Weber syndrome (SWS) associated glaucoma.
Refractory Sturge Weber-associated glaucoma (SWG) in children presents management challenges; glaucoma drainage device (GDD) implantation has met with variable success.