[Progress in pediatric neurology].

Abstract

A central part of Pediatric Neurology is currently dominated by the search for genetic factors involved in developmental disorders of the nervous system, including cases where the cytogenetic examination remains uncontributive. The prerequisite for a good definition of the malformative phenotypes leads to distinguish: 1 cerebral malformations that can be identified at the macroscopic scale, by imaging. 2 polymalformative syndromes including mental retardation where cerebral imaging is not contributive, thus the syndromatic definition is based on associated somatic anomalies. 3 Non-syndromatic mental retardation, where a genetic origin is clear only in the familial forms. Various methodological approaches have included genetic linkage studies, search for inframicroscopic chromosomal rearrangements in the critical region and investigation of candidate genes. A great number of syndromes have been connected with a great diversity of genetic mechanisms, whose many examples are presented: genopathies with regular or variable expression, unstable mutations, contiguous gene syndromes or other complex infracytogenetic rearrangements, chromosomal or genic mosaicisms, mutations submitted to parental imprinting. New methods of genomic screening will be necessary to progress in this field, given the great number of genes involved in cerebral development. As for the early developmental disorders of the PNS and muscle, their diagnosis becomes frequent during the intrauterine life, raising the problem of a better definition of the fetopathological phenotypes.