Acute Encephalopathies
Acute Encephalopathies Julie Thorne Parke The term encephalopathy refers to a diffuse disturbance of brain function resulting in behavioral changes, altered consciousness, or seizures. The term usually is reserved for…
Cerebral Palsy
Cerebral Palsy Bruce K. Shapiro Arnold J. Capute Cerebral palsy is a disorder of movement and posture that results from an insult to or anomaly of the immature central nervous…
Developmental Defects
Developmental Defects Marvin A. Fishman HYDROCEPHALUS Hydrocephalus is a congenital or acquired disorder in which an excessive amount of cerebrospinal fluid (CSF) is present within the cerebral ventricles. More CSF…
Evaluation of the Child with Neurologic Disease
Evaluation of the Child with Neurologic Disease Marvin A. Fishman PATIENT HISTORY AND NEUROLOGIC EXAMINATION The most important parts of the evaluation of a child with neurologic symptoms are the…
Inborn Errors Associated with Faulty Bone Mineralization
Inborn Errors Associated with Faulty Bone Mineralization Rebecca S. Wappner DISORDERS OF ALKALINE PHOSPHATASE Hypophosphatasia Alkaline phosphatase is contained in membrane-enclosed vesicles located at the sites of mineral deposition in…
Heritable Disorders of Connective Tissue
Heritable Disorders of Connective Tissue Bart L. Loeys Michael J. Wright Harry C. Dietz III The diversity of clinical features in connective tissue diseases pays witness to the ubiquitous nature…
Lysosomal Storage Disorders
Lysosomal Storage Disorders Rebecca S. Wappner Lysosomes are cytoplasmic, single membrane–bound organelles that contain hydrolytic enzymes responsible for the degradation of a variety of compounds, including mucopolysaccharides, sphingolipids, and glycoproteins….
Disorders of Purine and Pyrimidine Metabolism
Disorders of Purine and Pyrimidine Metabolism Rebecca S. Wappner PURINE AND PYRIMIDINE METABOLISM Purine and pyrimidine nucleotides are important constituents of RNA, DNA, nucleotide sugars, and other high-energy compounds and…
Peroxisomal Disorders
Peroxisomal Disorders Rebecca S. Wappner Peroxisomes are small, single membrane–bound, electron-dense, subcellular organelles associated with a growing number of recognized biochemical functions and related disorders. Initially termed microbodies, the name…
Disorders of Lipoproteins
Disorders of Lipoproteins Rebecca S. Wappner LIPOPROTEIN METABOLISM Lipids are a primary source of energy. They also function as the structural components of cell membranes and are precursors of biologically…
