Inborn Errors of Metabolism
Inborn Errors of Metabolism George E. Tiller Inborn errors of metabolism are last on everyone’s list of differential diagnoses because of their individual rarity. They must always be considered in…
CRITICAL CARE
Chromosomal Abnormalities
Chromosomal Abnormalities George E. Tiller For more than 50 years, chromosomal abnormalities have been recognized as the basis of certain genetic syndromes. Initially, only aneuploidies (the presence of more or…
Board Simulation: Development
Board Simulation: Development Roberta E. Bauer Mark H. Deis QUESTIONS 1. An infant remains in a seated position when placed on your examination table by his mother. His body stiffens…
Developmental Disabilities
Developmental Disabilities Roberta E. Bauer Mark H. Deis The developmental disabilities reviewed in this chapter include: Mental retardation (MR) Cerebral palsy (CP) Myelomeningocele (MMC) Autism and pervasive developmental disorder Attention…
Normal Child Growth and Development
Normal Child Growth and Development Mark H. Deis Roberta E. Bauer Pediatricians at well-child visits are the first and most consistent screeners of development, and they along with parents monitor…
Neurocutaneous Syndromes
Neurocutaneous Syndromes George E. Tiller The neurocutaneous syndromes or phakomatoses (phakos, Gr., a lentil, or lentil-shaped spot) are a group of unrelated disorders characterized by congenital abnormalities of the skin…
Board Simulation: Neurology
Board Simulation: Neurology Bruce H. Cohen QUESTIONS 1. A 4-year-old boy is being evaluated for developmental delay. His parents describe him as a very slow feeder who often choked on…
Neuromuscular Disorders: Muscular Dystrophies and Congenital Myopathies
Neuromuscular Disorders: Muscular Dystrophies and Congenital Myopathies Neil R. Friedman Childhood myopathies are a heterogeneous group of disorders primarily affecting skeletal muscles. They must be differentiated from primary neuropathic processes…
Nonepileptic Paroxysmal Disorders in Children
Nonepileptic Paroxysmal Disorders in Children Ajay Gupta Bruce H. Cohen, Elaine Wyllie APPROACH TO CHILDREN WITH PAROXYSMAL EVENTS A variety of disorders in children present as paroxysmal events that may…
Epilepsy and Anticonvulsant Therapy
Epilepsy and Anticonvulsant Therapy Deepak K. Lachhwani Elaine Wyllie Epilepsy is a common disorder, affecting approximately 2% of the U.S. population. For every patient, two types of diagnosis are important:…
