Abstract

Introduction: Prader-Willi Syndrome (PWS) is a genetic disorder due to loss of function of paternal copy of chromosome 15 while most manifestations are attributable to hypothalamic dysfunction. There are wide range of diversity in the symptoms such as hypotonia, abnormal neurologic function, hypogonadism, developmental and cognitive delays, hyperphagia and obesity, short stature, and behavioral and psychiatric disturbances.

Objective: This study aimed to describe the musculoskeletal and developmental improvement in a child with Prader-Willi Syndrome after physiotherapy program.

Case report: A girl aged 18 months old, attended to our clinic, with all the inherent PWS characteristics such as hyperphagia, obesity, hypotonia and delay motor milestones.

Conclusion: Parents motivation to keep physical activity in parallel with special physical therapy program can both lead to case improvement.