Sturge–Weber Syndrome with Bilateral Port-Wine Stain

Abstract

Sturge–Weber syndrome is a rare congenital neurocutaneous disorder characterized by dermatological, ophthalmological, and neurological manifestations. It occurs due to abnormal persistence of embryonic vascular plexus. Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral port-wine stain diagnosed as type I (classical) Sturge–Weber syndrome. The ophthalmological evaluation was unremarkable. Electroencephalogram showed abnormalities suggestive of a structural lesion in the right cerebral hemisphere. CT scan of the head revealed volume loss of right brain parenchyma with linear, cortical, as well as subcortical calcifications more evident in the right hemisphere. The child should be followed up regularly until adulthood for ophthalmological evaluation, recurrence of seizures, and other manifestations of this disorder.

A case report on type I sturge weber syndrome with bilateral port-wine stain

“…13 According to a case report by Kundan Mittal et al bilateral dark-pigmented port wine stain over face, trunk, back, and arms. 14,15 Our patient did not involve PWS on any other parts of the body except her face.…”

Sturge Weber Syndrome Roach Type I: A case report

“…In different studies, it has been seen, that SWS has a male preponderance, and the age of presentation ranges from birth to the second decade of life, and the majority of them present before the second birthday. 5,6,9 Capillary hemangioma of the face known as port-wine stain (PWS) is one of the common features of SWS seen in types I and II, distributed along the branches of the 5 th cranial nerve. They are sometimes called nevus flammeus, are usually unilateral, and more commonly along the ophthalmic division of the trigeminal nerve.…”

“…A number of ocular problems have been reported in SWS cases, including nevoid marks in the sclera, conjunctival telangiectasia, bupthalmos, choroidal hemangioma, and glaucoma, arterio-venous angiomas in the optic nerve, and aneurysms in retinal vessels. 5,9 Vascular proliferation in the trabecular meshwork of the eyeball leads to the development of a very difficult category of glaucoma for ophthalmologists to treat. In a study, Helmi et al found that around seventy percent of ocular cases of SWS had glaucoma.…”