Background: The symptoms of PraderWilli syndrome are likely due to dysfunction of a portion of the brain called the hypothalamus. Children of PraderWilli syndrome want to eat constantly because they never feel full hyperphagia and usually have trouble controlling their weight.
Objective and hypotheses: Genetic syndromes with obesity and delayed altered intellectual development as a major part of the phenotype include PraderWilli syndrome, Albright hereditary osteodystrophy, Alstrom syndrome, Bardet-Biedl syndrome, Borjeson-Forssman-Lehmann syndrome, Cohen syndrome and fragile X syndrome. Chromosomal conditions, including Down, Klinefelter and Turner syndromes, also have an increased prevalence of obesity.
Method: Children patients with PraderWilli syndrome may require the support of the following specialists: geneticist for initial diagnosis and counseling, developmental pediatrician for stimulation programs, endocrinologist for management of hypogonadism, nutritionist for dietary counseling, ophthalmologist for management of strabismus, pulmonologist for management of sleep apnea, psychiatrist, psychologist, or both for management of behavioral issues and gastroenterologist for GI issues. Authors have had six children preschool patient during last two decade.
Results: Babies with PraderWilli syndrome commonly gain weight more slowly than other babies. Based on these guidelines, authors had made the diagnosis of PraderWilli syndrome is highly likely in children younger than three years with five points (three from major criteria) or in those older than three years with eight points (four from major criteria) in six preschool children. Additionally ten minor criteria and five criteria we had described during twenty years in the most cases of Prader Willi syndrome depends from child and level of disease.
Conclusion: PraderWilli syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period. PraderWilli syndrome is the most common genetic cause of obesity in children.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology