Cerebral dysgeneses secondary to metabolic disorders in fetal life

Abstract

This chapter provides an overview of both clinical and experimental observations that link several prenatal-onset metabolic disorders to cerebral dysgeneses. Perturbation of cellular metabolism during critical periods of embryonic or fetal brain development can often explain both cause and effect cerebral dysgeneses. Prenatal metabolic disturbances may result from the effects of nutritional deficits, environmental toxins, and genetic mutation. The mechanisms by which cellular metabolic alterations disrupt sequential stages in cerebral morphogenesis are the study of biochemical genetics, developmental neurobiology, pediatric neuropathology, teratology, and clinical child neurology. The large amounts of data produced in these diverse areas of study create ongoing challenges for clinical classification, model building, and outcome analysis. The identification of cerebral dysgeneses has progressed rapidly with the routine use of prenatal ultrasound and postnatal magnetic resonance imaging (MRI) in the diagnostic evaluation of children with cerebral growth abnormalities, seizures, and nonspecific developmental delays. Metabolic screening technologies, such as prenatal α-fetoprotein and neonatal tandem mass-spectroscopy testing, contribute to the earlier recognition of metabolic disorders.