Snapshot A 6-year-old male is brought to the pediatrician due to persistent temper tantrums and insatiable hunger. She states that her son can be very stubborn, and is not fond of changes in daily routine. She also reports binge eating behavior. Medical history is significant for neonatal hypotonia and cryptorchidism, which was properly managed. His body weight > 99%. On physical exam there is central obesity, short stature, almond-shaped eyes with a narrow forehead and nasal bridge. Introduction Congenital disease caused by gene missing from part of chromosome 15 Most patients are missing a portion of the paternal chromosome Usually not an inherited condition that is evident in previous generations Presentation Symptoms newborns have trouble suckling or swallowing may display failure to thrive in infancy floppy or ragdoll baby weak cry abnormal facial features may include almond-shaped eyes small, down-turned mouth aggressive behavior, especially related to feeding/eating Physical exam fetus may be noted to be small for gestational age hypoplastic or undescended testicles delayed onset of puberty thin upper lip truncal obesity at 1-4 years of age slow motor development may show signs of right-sided heart failure knee and hip instability Evaluation Diagnosis is based primarily on physical exam at infancy usually demonstrates "floppy baby" with "undescended testicles" Genetic testing may identify missing portion of chromosome 15 to confirm diagnosis Labs glucose intolerance high insulin level failure to respond to LHrF high CO2, low O2 Differential Down syndrome Treatment Medical management feeding tube may be indicated in infancy for weight gain diet and exercise critical for controlling tendency toward morbid obesity must be coordinated effort at home, school, and with friends behavioral therapy critical for conditioning child to normal eating habits and responses to denial growth hormone supplementation shown to improve muscle strength and agility some concerns about GH impact on lung function, so must be discussed hormone-replacement therapy testosterone may be indicated in infancy for microphallus HRT may be indicated at puberty to enhance sexual development Prognosis, Prevention, and Comlications Prognosis with appropriate behavioral therapy and education, children can be high-functioning Prevention aggressive diet and exercise can have incredible impact on healthy living Complications osteoarthritis, right-sided heart failure, type II diabetes mellitus