Review article Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review Elena Pavlidis, Gaetano Cantalupo*, Sonia Boria, Giuseppe Cossu, Francesco Pisani Child Neuropsychiatry Unit, University of Parma, Via Gramsci 14, 43126 Parma, Italy article info Article history: Received 14 June 2011 Received in revised form 2 December 2011 Accepted 3 December 2011 Keywords: Epidermal nevus syndrome Hemimegalencephaly Epilepsy Mental retardation Organoid nevus syndrome Linear sebaceous nevus syndrome Schimmelpenning syndrome FeuersteineMims syndrome Solomon syndrome Jadassohn’s nevus syndrome Phakomatosis abstract The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. A 13-year-old boy with the neurologic variant of ENS with hemimegalencephaly, facial asymmetry, febrile seizures and mental retardation is reported. Additionally, we per- formed a literature review using the search terms “epidermal nevus syndrome” and “hemimegalencephaly”, including secondary sources of data such as reference lists of articles reviewed. We found 57 previously reported cases with the hemimegalencephalic variant of epidermal nevus syndrome, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, mental retardation/develop- mental delay, ocular/visual involvement, and facial abnormalities. ª 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. Contents 1. Introduction ............................................................................................... 333 2. Case report ................................................................................................ 333 3. Literature review ........................................................................................... 334 4. Discussion and conclusions ................................................................................. 339 Acknowledgements ......................................................................................... 341 References ................................................................................................. 341 * Corresponding author. Tel.: þ39 0521 702205; fax: þ39 0521 704708. E-mail address: gcantalupo@gmail.com (G. Cantalupo). Official Journal of the European Paediatric Neurology Society european journal of paediatric neurology 16 (2012) 332 e342 1090-3798/$ e see front matter ª 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.ejpn.2011.12.004