Intestinal and Multivisceral Transplant Simon Horslen Intestine transplantation is now an established treatment for irreversible intestinal failure, allowing affected children the possibility to eat and drink normally while…
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…
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…
