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.

Figure 1

Port-wine stain over the right part of the forehead, periorbital area, and maxillary area (V₁ and V₂ dermatome of the right trigeminal nerve) and left part of the forehead and periorbital area (V₁ dermatome of left trigeminal nerve).

Figure 2

CT head (with angiography) showing volume loss of right brain parenchyma and linear calcifications.