DEVELOPMENTAL NEURAL ABNORMALITIES AND SEIZURES IN EPIDERMAL NEVUS SYNDROME

The epidermal nevus syndrome (ENS) is an unusual neurocutaneous disord er consisting of the combination of an epidermal nevus and a central n ervous system (CNS), ophthalmological, and/or skeletal abnormality. Th e study reports four new patients with ENS. Each had a confirmatory bi opsy of the epidermal nevus, abnormal neurological examination finding s, and documented CNS anatomical studies by imaging or autopsy. The pa per also reviews the literature in English to determine neurological a bnormalities found in skin-biopsy proven cases of ENS. Hemi-atrophy, h emimegalencephaly, migrational abnormalities and vascular anomalies we re found to be the most frequent intracranial abnormalities associated with ENS. Seizures and/or disabling moderate to severe developmental delays were present in a majority of patients. Seizure onset during th e neonatal period or early infancy was associated with major hemispher ic malformations. Neuro-ectodermal-derived ocular lesions were often b ilateral. No consistent relation between laterality of the nevus and l aterality of CNS abnormalities was found, supporting the gene mosaicis m theory of pathogenesis.