Prader Willi Syndrome (PWS) is characterized by hypotonia, developmental delay, short stature, small extremities, characteirstic facies, hyperphagia, obesity, hypogonadism, obstructive sleep apnea and other behavioral problems. We report twelve cases of PWS (four females, eight males) in the age group of 118 years being treated at Sir Ganga Ram Hospital, a tertiary care center in Northern India. In males, seven (87%) had cryptorchidism; in females, one (25%) had labia minora hypoplasia. Nine children (75%) were diagnosed during infancy, two between 3 and 5 years and one at 9 years of age. DNA methylation analysis for PWS was positive in all children, three of them had deletion of 15q11-13 (FISH) & one had uniparental disomy (DNA polymorphism analysis). Among ten children in the 518 year age group, nine are obese and one is overweight. Five of these twelve patients presented with increased daytime sleepiness and polysomnogram showed mild to moderate degree of Obstructive Sleep Apnea in four while one had a normal study. Except one child, rest of them had delayed motor milestones. Three developed hypothyroidism, one had scoliosis, and one developed Type 2 Diabetes. Four children were started on GH replacement at 912 years of age for growth failure. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology