Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus

Abstract

Sturge-Weber syndrome (SWS), a rare sporadic neurocutaneous disease, is characterized by a congenital unilateral port-wine nevus affecting the area innervated by V1, ipsilateral leptomeningeal angiomatosis, and calcification in the occipital or frontoparietal region and glaucoma/vascular eye abnormality. Three types of SWS have been described in literature: Type I (classic) demonstrates facial and leptomeningeal angioma, often with glaucoma; type II has facial angioma and glaucoma, with no evidence of intracranial lesions; and type III (rarest) presents with only leptomeningeal angioma. Only a few cases of type III SWS have been reported. Here, we report a case of a seven-year-old boy with focal complex partial seizure, who was diagnosed with SWS without facial nevus. Recognition of this type of SWS is important, as our patient had been misdiagnosed and received inappropriate antiepileptic drugs for six years. We suggest that in the appropriate clinical scenario, the diagnosis of SWS without facial nevus should be considered before labelling idiopathic or cryptogenic localization-related epilepsy, and gadolinium-enhanced magnetic resonance imaging (MRI) should be done in clinically suspicious cases of SWS, without facial nevus.

Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

“…Ocular alterations in SWS are seen in approximately 30–60% of patients [ 7 ]. The vascular anomalies include the facial nevus flammeus [ 1 , 2 ], ipsilateral leptomeningeal angiomatosis [ 8 ], diffuse choroidal hemangioma [ 9 – 29 ], and rarely retinal vascular anomalies [ 30 , 31 ]. The GNAQ gene, involved in regulating intracellular signaling pathways [ 32 ], has been identified as a potential cause for SWS [ 5 ].…”

Sturge Weber Syndrome With Posterior Fossa Involvement : A Rare Case

“…Sturge-Weber syndrome (SWS) is a rare congenital vascular disorder characterized by facial capillary malformation (port wine stain), associated capillary-venous malformations affecting the brain and eye along with calcification in the occipital or frontoparietal region. 1 Also known as encephalotrigeminal angiomatosis ,it is grouped under a disorder collectively termed as phakomatoses and is also included under cerebrofacial arteriovenous metameric syndrome. 2 Patient usually present with varying degrees of neurologic impairment including epilepsy, hemiparesis, visual field deficits and cognitive impairments ranging from mild learning disabilities to severe deficits along with ophthalmologic, psychiatric , endocrine and other medical abnormalities.…”

Sturge-Weber Syndrome Type III

“…Type III Sturge-Weber syndrome is the rarest subtype and presents with leptomeningeal involvement without the port-wine stain on the face (1)(2)(3). Only a few cases of this type have been reported, and its incidence is unknown (4)(5)(6)(7). This subtype is generally diagnosed based on the findings of leptomeningeal angiomas in contrast brain magnetic resonance imaging (MRI) scans and calcifications in the same region via brain computed tomography (CT) scans of patients presenting with seizures (4,5).…”

“…Only a few cases of this type have been reported, and its incidence is unknown (4)(5)(6)(7). This subtype is generally diagnosed based on the findings of leptomeningeal angiomas in contrast brain magnetic resonance imaging (MRI) scans and calcifications in the same region via brain computed tomography (CT) scans of patients presenting with seizures (4,5). Here, we present the case of a 5.5-month-old patient with Type III Sturge-Weber syndrome presenting with seizures.…”