Original article Clinical features of SturgeeWeber syndrome without facial nevus: Five novel cases Laura Siri a, *, Lucio Giordano b , Patrizia Accorsi b , Massimo Cossu c , Lorenzo Pinelli d , Laura Tassi c , Pasquale Striano e a Neuropsichiatria Infantile Pediatria Ospedale San Paolo, Savona, Italy b U.O Neuropsichiatria Infantile Spedali Civili, Brescia, Italy c ‘C. Munari’, Center for Epilepsy Surgery Ospedale Riguarda, Milano, Italy d Neuroradiologia Spedali Civili, Brescia, Italy e Pediatric Neurology and Muscular Diseases Unit, University of Genoa, “G. Gaslini” Institute, Genova, Italy article info Article history: Received 15 June 2011 Received in revised form 8 May 2012 Accepted 19 June 2012 Keywords: SturgeeWeber Cortical calcifications Pial angioma Drug-resistant seizures Surgical resection abstract Classic SturgeeWeber syndrome (SWS) is characterized by presence of flammeus nevus involving the first sensory branch of trigeminal nerve, ipsilateral leptomeningeal angio- matosis, 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 litera- ture. 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 calci- fication. 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. ª 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. 1. Introduction SturgeeWeber 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 angioma- tosis, 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. 2e4 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. 5e16 We report five novel patients showing variable clinical appearance and compare their findings with those described in the literature (Table 1). * Corresponding author. Tel.: þ39 0 198404739. E-mail address: laura.siri@libero.it (L. Siri). Official Journal of the European Paediatric Neurology Society european journal of paediatric neurology 17 (2013) 91 e96 1090-3798/$ e see front matter ª 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.ejpn.2012.06.011