A Case Of Prader-Willi Syndrome With Behavioural Disturbances: A Successful Multidisciplinary Management Approach

Prader-Willi syndrome is a genetically determined neurodevelopmental disorder caused by the absence of paternal expression of imprinted genes in the critical region at 15q11–13 with an incidence of 1 in every 15,000 births [1]. The main characteristic features include neonatal hypotonia, feeding problems, short stature, hypogonadism, hyperphagia, obesity, characteristic facial appearances and mild to moderate intellectual disability [2]. Prader-Willi syndrome leads to an increased risk for specific comorbid behavioural and psychiatric problems [3]. There is initial extreme hypotonia and failure to thrive in newborns, followed by early childhood preoccupation with food and hyperphagia, developmental and cognitive delay, evidence of relative growth and sex hormone deficiency (short stature and impaired sexual development) and high ghrelin levels. There are also marked propensity to problem behaviours, such as temper outbursts, repetitive and ritualistic behaviours, mood swings and skin picking [4]. In Malaysia, it is a rare opportunity to see patients with PWS. This case report is written to discuss the journey of recovery for an adolescent with PWS.