Original article
Clinical features of Sturge–Weber syndrome without facial nevus: Five novel cases

https://doi.org/10.1016/j.ejpn.2012.06.011Get rights and content

Abstract

Classic Sturge–Weber syndrome (SWS) is characterized by presence of flammeus nevus involving the first sensory branch of trigeminal nerve, ipsilateral leptomeningeal angiomatosis, and choroidal angioma. Sporadic cases of SWS without facial nevus (SWS type III) have been rarely reported. Here we report the clinical and neuroradiological findings of five patients with SWS type III and compare their findings with those described in the literature. This study confirmed that SWS type III should be considered in any child or young adult presenting with seizures or complicated migraine and intracranial unilateral calcification. The diagnosis must be confirmed with contrast-enhanced MRI images of the brain. Surgical therapy should be considered in patients with drug-resistant and persistent epileptic seizures.

Introduction

Sturge–Weber syndrome (SWS) is a neurocutaneous disease characterized by congenital unilateral port-wine nevus affecting the area innervated by the first sensory branch of the trigeminal nerve, ipsilateral leptomeningeal angiomatosis, and calcifications in the occipital or frontoparietal region.1

Clinical manifestations may include focal epilepsy with unilateral seizures, usually contralateral to the side of the facial nevus, intellectual impairment of variable degree, and hemiparesis or homonymous hemianopsia contralateral to the brain lesion.1 In some cases, ocular manifestations, such as glaucoma and buphthalmos, may also occur.2, 3, 4

SWS can be divided into three subtypes: type I (‘classical’ SWS with facial and leptomeningeal angioma), type II (facial angioma, with no endocranial involvement), and type III (with leptomeningeal angioma only). Only few of SWS type III have been thus far reported.5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16

We report five novel patients showing variable clinical appearance and compare their findings with those described in the literature (Table 1).

Section snippets

Patient 1

This 10-year-old girl was born at 32-weeks of gestation from healthy nonconsanguineous parents. Her motor and mental development was normal during the first year of life. At age 16 months the girl manifested a cluster of focal seizures characterized by right head and eyes deviation and unresponsiveness, lasting about 1 min each. No therapy was given. At age 5 years she came to our observation for weekly focal seizures featuring right head and eyes deviation, oromasticatory automatisms, and loss

Discussion

SWS is among the most important neurocutaneous syndromes with prominent vascular involvement of the cerebral nervous system.1 The clinical features of the classic SWS include epilepsy (75–90% of patients), mental retardation (50%), hemiplegia (30%), and glaucoma (30%). Typical neuroradiologic features of SWS include gyriform calcification in the posterior cerebral areas, brain focal atrophy, and enlargement of the choroid plexus on the side of the pial angioma. These abnormalities are better

Conclusion

SWS type III should be considered in any child or young adult presenting with seizures or complicated migraine and intracranial unilateral calcification. The diagnosis must be confirmed with contrast-enhanced MRI images of the brain. Patients with SWS type III show heterogeneous clinical features, such as seizure disorder with a variable spectrum of seizure types or severity and frequent migraine-attacks. Some affected individuals may present with mild neurological and cognitive impairment.

Disclosure statement

The authors report no disclosures.

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