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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 performed 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/developmental delay, ocular/visual involvement, and facial abnormalities., (Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

In this case report we describe the presence of a unilateral watershed infarction in a preterm born infant. Structural imaging in the neonatal period and in adolescence confirmed a typical lesion pattern compatible with watershed infarction in term born infants. Though the resulting parasagittal cleft transected the primary motor cortex, motor function of the affected hand was relatively spared. Functional MRI and transcranial magnetic stimulation revealed an important role for the unaffected hemisphere in motor control of the affected hand, showing once again that early cortical reorganization may lead to a near normal hand function., (Copyright © 2011 European Paediatric Neurology Society. All rights reserved.)

Merosin-deficient congenital muscular dystrophy (MD) type 1A (MDC1A) is one of the most frequent forms of CMD in Western countries. The classical form, characterized by a total lack of laminin alpha2 chain expression, usually shows severe clinical features; cases with complete laminin alpha2 deficiency and mild phenotype have also been reported, although the mechanisms underlying the lack of genotype-phenotype correlation have not been elucidated. Epilepsy and focal cortical dysplasia-in addition to the classical diffuse white matter abnormalities-have been described in some of these patients associated with cognitive deterioration. We report on a patient with total laminin alpha2 deficiency due to a homozygous stop-codon mutation in the LAMA2 gene, with mild evolution. When 6.9 years old, she developed focal occipital seizures and absence-like status when awake, with probable relation to an extensive bilateral occipital micropolygyria. Soon afterwards she lost ambulation and developed cognitive deterioration. Our case confirms that the clinical spectrum of MDC1A is more heterogeneous than previously thought.