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.

Keywords: Facial nevus; Sturge-Weber syndrome; gyral calcification; leptomeningeal angiomatosis.

Figure 1

Axial T1, T2 images of an unenhanced MRI do not showany abnormality

Figure 2

Axial, coronal, and sagittal images of a plain CT head show gyriform calcification in the right parietal cortex. Associated volume loss in the parietal lobe is noted

Figure 3

Axial, coronal, and sagittal images of a contrast-enhanced MRI reveal focal enhancement with the right parietal sulci

Figure 4

Axial CT angiogram source images and reconstructed CT angiogram images do not reveal any arteriovenous malformation