Clinical Case Conference Prader-Willi Syndrome

Prader-Willi syndrome is a genetic disorder characterized by mental retardation, dysmorphic features, and behavioral dysfunction, most notably food-related problems such as hyperphagia, food seeking, and a high risk for obesity (1). Although food-related symptoms are a hallmark of the disorder, other psychiatric manifestations are common and can lead to significant interference in the affected individual’s development and functioning. Characteristic symptoms may include temper tantrums, oppositional behavior and stubbornness, emotional lability, and obsessive ruminations or compulsive behaviors such as skin-picking (2). In light of its distinctive behavioral, psychiatric, and genetic findings, PraderWilli syndrome has emerged as a model for genetic and neurodevelopmental disorders. A girl with PraderWilli syndrome illustrates the characteristics of the syndrome and its clinical management and suggests how Prader-Willi syndrome can serve as a heuristic model for other neuropsychiatric conditions.