Cerebral dysgeneses associated with chromosomal disorders

Publisher Summary This chapter provides an overview of the brain abnormalities reported in chromosomal disorders commonly seen in a pediatric neurology practice, as well as in a few rare disorders of special interest. The clinical features, including the brain abnormalities, seen in chromosomal disorders are often nonspecific. Within many syndromes, a broad spectrum of central nervous system abnormalities may be seen, but certain patterns of brain malformation are seen with greater frequency. This is because of the fact that common genes are affected in specific syndromes and it is the disturbance of normal gene expression that ultimately results in the observed malformations. Advances in neuroimaging, along with new techniques being developed in the fields of gene expression and proteomics, promise to revolutionize the understanding of the mechanisms responsible for brain malformations. High-resolution magnetic resonance imaging (MRI) can already be done not only in very young infants but also in fetuses. This can help in learning not only what is abnormal about the brains of children with chromosomal abnormalities, but also when the changes are first noted.