Endocrine Neoplasia Syndromes   Steven D. Chernausek and Constantine A. Stratakis   INTRODUCTION Most endocrine tumors in children occur in the context of genetic conditions predisposing to multiple neoplasias: multiple…

Anxiety   Denise A. Chavira   Fear is an emotional response that is a normal part of development and essential to human survival. It is both protective and adaptive. In…

Neurocutaneous Disorders   David H. Viskochil   Neurofibromatosis types 1 and 2 (NF1 and NF2), tuberous sclerosis complex (TSC1 and TSC2), and von Hipple-Lindau disease (VHL) are neurocutaneous disorders that…

Hydrocephalus and Pseudotumor Cerebri   Nicole J. Ullrich   HYDROCEPHALUS Hydrocephalus is a condition in which there is an accumulation of cerebrospinal fluid (CSF) within the ventricles, leading to increased…

Gastrointestinal Infections   Matthew B. Laurens and Michael S. Donnenberg   Gastrointestinal infections account for a large burden of morbidity and mortality in children worldwide. In developing countries, gastrointestinal infections…

Alpha-1 Antitrypsin Deficiency Lung Disease   Terence R. Flotte and Christian Müeller   Alpha1-antitrypsin (AAT) circulates in the plasma as a 52-kD glycoprotein. It is synthesized primarily in hepatocytes and…

Chest Wall and Respiratory Muscle Disorders   Jonathan D. Finder   Chest wall disorders range from cosmetic to life-threatening and are not uncommon in pediatric medicine. Disease states that lead…

Pulmonary Alveolar Proteinosis   Bruce C. Trapnell and Lisa R. Young   Pulmonary alveolar proteinosis (PAP) is a syndrome characterized by the accumulation of surfactant lipids and proteins within the…

Key Principles in Human Genetics   Michael J. Bamshad and Lynn B. Jorde   Genetic disorders and birth defects are sometimes perceived as being so uncommon that the general pediatrician…

Diarrhea   Ricardo A. Caicedo and Ivor D. Hill   Diarrhea is an increase in the liquidity and/or frequency of the stools. It reflects an increase in stool water content…