Chapter 34 Diseases Associated with Primary Abnormalities in Carbohydrate Metabolism Marc C. Patterson, Kenneth F. Swaiman Introduction Carbohydrates are essential elements in the cellular energy economy, and the inability to…
Chapter 23 Disorders of Forebrain Development Elliott H. Sherr, Jin S. Hahn Introduction The prosencephalon forms at the end of primary neurulation as one of three principal vesicles: the hindbrain,…
Chapter 41 Degenerative Disorders Primarily of Gray Matter Rose-Mary N. Boustany, Mohamad K. El-Bitar This chapter groups together the seemingly disparate entities of Rett’s syndrome (RTT), Menkes’ disease, Alpers’ disease,…
Chapter 71 Genetic and Metabolic Disorders of the White Matter Adeline Vanderver, Nicole I. Wolf Introduction Over the past two decades, an increasing number of novel heritable disorders affecting the…
Chapter 26 Malformations of Cortical Development William B. Dobyns, Renzo Guerrini, Richard J. Leventer Development of the human cerebral cortex is a complex and tightly regulated process that can be…
Chapter 6 Vision Loss Douglas R. Fredrick In children, the complaint of blurred vision or vision loss is often nonspecific and may be difficult to elicit. Although most causes of…
Chapter 98 Disorders of the Autonomic Nervous System Autonomic Dysfunction in Pediatric Practice Felicia B. Axelrod Introduction The autonomic nervous system (ANS) is pervasive and affects every organ in the…
Chapter 97 Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence Qing Dong, Stephen M. Rosenthal Introduction Through integrated neural and hormonal signaling, the hypothalamus and pituitary regulate…
Chapter 28 Congenital Anomalies of the Skull Pedro A. Sanchez-Lara, John M. Graham, Jr. Introduction Congenital anomalies of the skull can arise any time during gestation and must be distinguished…
Chapter 56 Myoclonic Seizures and Infantile Spasms Kendall Nash, Joseph Sullivan Introduction Myoclonus, myoclonic seizures, and infantile spasms share many common features yet are seen in a wide variety of…
