Neuroimaging findings in Pallister-Killian syndrome.

Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population. MRI abnormalities common to PKS include cerebral volume loss, malformations of cortical development, corpus callosum dysgenesis, white matter disease, and craniofacial malformations. In our patient, new findings of perisylvian with occipital polymicrogyria, vermian dysplasia, brachium pontis signal abnormality, dural anomalies, and unilateral atlas assimilation were noted. Micrencephaly and cortical dysplasia provide a likely explanation for severe intellectual disability and epilepsy in this patient population.

In utero exposure to antiepileptic drugs: teratogenicity and neonatal morbidity.

Clinical studies have extensively documented the various risks posed by in utero exposure to antiepileptic drugs (AEDs). However, it is difficult to sort out the extent to which any given AED is responsible for a particular outcome, given the disparities in patients taking the drugs, their type and severity of epilepsy, and the various possible AEDs, as well as the vast number of outcomes that could be assessed. This review focuses on AED exposure during pregnancy and how it affects the risks of neonatal morbidity and major congenital malformations.