Idiopathic Intracranial Hypertension Marvin A. Fishman Idiopathic intracranial hypertension is a syndrome in which increased intracranial pressure (ICP) occurs in patients who have no history of an acute insult to…
Static Encephalopathy Timothy E. Lotze Static encephalopathy is a syndrome of abnormal motor functions and postural mechanisms caused by nonprogressive abnormalities of the developing brain. The term encompasses a heterogenous…
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 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 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 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 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 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 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 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…
