Sturge-Weber Syndrome with Cortical Blindness

Abstract

A 5-year-old girl visited our clinic with her mother. Her mother reported that her daughter usually looked at objects with a lateral gaze. She also often runs into things with her right side and easily gets the right side of her clothes dirty while eating. The patient presented with multiple erythematous patches on her right forehead (Fig. 19.1) and was previously diagnosed to have Sturge-Weber syndrome. She also had a past medical history of epilepsy under medical control. Her visual acuity was 6/6 in both eyes. Intraocular pressures were normal. She exhibited orthophoria with a full range of movement in both eyes. Fundoscopic examination showed large cupping of the optic discs in both eyes (Fig. 19.2). OCT examination revealed decreased thickness of the peripapillary retinal nerve fiber layer (RNFL) in both eyes. In addition, it demonstrated a special pattern of hemi-loss of the left-sided ganglion cell-inner plexiform layer (GC-IPL) (Fig. 19.3). A visual field examination showed incongruous right homonymous hemianopia in both eyes (Fig. 19.4), corresponding with the hemi-loss of left GC-IPL observed. We arranged a CT scan of the brain which showed several spots of high density in the left parietal region (Fig. 19.5). A vascular lesion or migration disorder was suspected. MR imaging of the brain revealed smaller-sized left temporo-parieto-occipital lobes, associated with less gyration, extensive pia enhancement, and relatively larger left-sided choroid plexuses. MR angiography showed extensive leptomeningeal angiomatosis over left side (Fig. 19.6). These imaging findings are compatible with the CNS involvement present in Sturge-Weber syndrome.