Prader-willi syndrome (PWS) : A case report.

Abstract

Prader - Labhart - Willi described a syndrome of obesity, hypogonadism, cryptorchidism, oligophrenia and hypotonia in 1956, subsequently over 500 cases have been reported.

Prader - Willi Syndrome (PWS) may present with hypotonia, respiratory and feeding problems in newborn period, obesity usually present at 1-3 years of age, delayed development, short structure, almond - shaped eyes, hypogenitalia, small hands and feet. Major cause of PWS is deletion of chromosome 15q11-13. Diagnosis was used consensus diagnosis criteria and confirmed diagnosis with genetic laboratory. Methylation analysis is the most efficient test and will show a positive result in almost all PWS. Goal of treatment is to prevent and control obesity which leading to many
complications.

This report present a 12 years old boy with obesity. Clinical diagnosis is PWS.