Seizures in Children
Seizures in Children James J. Riviello Jr Douglas R. Nordli Jr INTRODUCTION A seizure is a paroxysmal neurologic event resulting from excessive central nervous system (CNS) excitation, the hypersynchronous neuronal…
Progressive Muscular Dystrophies
Progressive Muscular Dystrophies Mathula Thangarajh Petra Kaufmann Louis H. Weimer Michio Hirano Lewis P. Rowland DEFINITION A muscular dystrophy has five essential characteristics: It is a myopathy, as defined by…
Neurocutaneous Syndromes
Neurocutaneous Syndromes Marc C. Patterson INTRODUCTION Several genetic diseases involve both the skin and nervous system. These are called neurocutaneous disorders or neuroectodermatoses. In the past, they were referred to…
Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophies of Childhood Petra Kaufmann Darryl C. De Vivo SPINAL MUSCULAR ATROPHY RELATED TO CHROMOSOME 5 MUTATIONS GENETIC ETIOLOGY Spinal muscular atrophy is a motor neuron disease that…
Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies Salvatore DiMauro Michio Hirano INTRODUCTION Mitochondria are uniquely intriguing organelles, not only for the variety of biologic functions that they perform but also because of their regulation by…
Autism Spectrum Disorders
Autism Spectrum Disorders Reet K. Sidhu INTRODUCTION Autism spectrum disorders (ASD) are a heterogeneous group of biologically based neurodevelopmental disorders of brain function. They are a behaviorally defined group of…
Nervous System Formation and Malformation
Nervous System Formation and Malformation Gary D. Clark INTRODUCTION Induced by underlying mesodermal structures, such as the notochord, and inhibited by surrounding ectodermal tissue, the nervous system begins as a…
Inborn Errors of Metabolism
Inborn Errors of Metabolism Marc C. Patterson INTRODUCTION There are hundreds of inborn errors of metabolism, each individually rare, but collectively sufficiently common to constitute a significant public health burden….
Disorders of Motor and Mental Development
Disorders of Motor and Mental Development Toni S. Pearson Reet K. Sidhu INTRODUCTION Infancy and early childhood are marked by rapid brain growth and development. A wide variety of genetic…
Neonatal Neurology
Neonatal Neurology Arthur M. Mandel INTRODUCTION Pediatric neurologists treat many children with brain injuries that originate in the perinatal period and cause mental retardation, cerebral palsy, and/or seizures. This chapter…
