Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic acid normalizes cholestanol concentrations ...and abrogates progression of the disease. We present 4 patients with cerebrotendinous xanthomatosis within 1 family who were treated with chenodeoxycholic acid for 14 years. Two young sisters started treatment at the preclinical stage before the appearance of major symptoms. Their 2 older uncles, who had already developed the complete phenotypic form of cerebrotendinous xanthomatosis when diagnosed, commenced treatment at the same time as the sisters, thus establishing a natural control group. After 14 years of chenodeoxycholic acid therapy, the cholestanol levels of all 4 patients decreased to normal levels (<6 microg/mL). Both sisters remained asymptomatic. Only moderate improvement in symptoms was observed in their uncles. In this long-term study, prompt preclinical administration of chenodeoxycholic acid in early childhood completely prevented the cerebrotendinous xanthomatosis phenotype in 2 sisters. Pediatricians should be aware of this diagnostic possibility of cerebrotendinous xanthomatosis in children presenting with chronic diarrhea and juvenile cataracts. Prevention is particularly significant in light of the availability of early genetic diagnosis and the devastating effects of this illness if not treated.
The fourth edition of this best-selling reference is a valuable resource to clinicians and child advocates serving children and families affected by suspicions of child sexual abuse. Fully updated ...and revised by leading experts on child abuse, this resource covers what a complete and comprehensive medical evaluation entails, when to seek an examination, the importance of conducting a medical history, how discrepancies between a child's history and physical findings can be explained, how the child's medical record should be structured, what types of documentation should be expected, and how a medical diagnosis is formulated. NEW TOPICS INCLUDE Telemedicine in the child sexual abuse medical evaluation Human trafficking International issues in child sexual abuse Enhanced focus on findings that mimic sexual abuse and on developmental considerations
Pediatric Nutrition Kleinman, Ronald E; Greer, Frank R
2019, 20200101, 2019-11-15
eBook
Proper childhood nutrition can be the bedrock of lifelong health. This AAP policy manual makes clear policies and procedures for the best nutrition for well children as well as those with metabolic ...abnormalities and serious illnesses.
Contains a detailed overview of normal growth and nutrition needs from birth to adolescence. Also addresses unique nutritional needs and management issues in many pediatric diseases and conditions. ...Designed to be used primarily by dietitians in pediatric practice, as well as pediatricians, pediatric nurses, and other pediatric health care providers. Oncology and marrow transplantation / Karen V. Barale -- Nutrition in the burned pediatric patient / Michele M. Gottschlich -- Childhood obesity / Ruth W. Crocker -- Eating disorders / Andrea Bull-McDonough
Atherosclerosis and hypertension, common causes of death in adults, may originate in childhood. Genetic, environmental, and nutritional factors may contribute to the disorders, but may also have ...preventive value in children. Investigations concerning the earliest origins of these disorders are presented, with a focus on those areas of research which represent potential medical strategies for prevention of atherosclerosis and hypertension. The predictive value of nutrition, obesity, cigarette smoking, plasma lipids and lipoproteins, serum cholesterol, heredity, blood pressure, and other risk factors is examined. Sociological and cultural dietary studies, such as the design of lipid profiles in children, are described; these are aimed at reducing cardiovascular risks in certain populations by fat-modified diets. The effect of socioeconomic status on the development of obesity in children is evaluated
