Prader Willi syndrome

Genetic imprinting disorder with partial deletion on chr15 (q11-13) of ‘Paternal’ origin

Most are new chance mutation

[similar change on chr15 of maternal origin is seen in Angelman synd]

Manifestations:

Newborn and infancy:

– Hypotonia

– Feeding difficulties

   may need NGT feeds

– Failure to thrive

– Developmental delay

 

Early childhood:

– Hyperphagia starts

– Leads to Obesity

– Relatively small hands / feet

– Short stature

 

Older children:

– Obesity

– Learning difficulties

– Behavioural disorder

– Boys: undescended testes,   

   hypogonadism

– Girls: premature adrenarche

Complications:

– Type 2 diabetes

– Obstructive sleep apnoea

 

Management:

– NGT Feeding may be needed as neonate

– Dietitian support in infancy and childhood

– Growth hormone improves height velocity & muscle mass

– Hormones for adrenarche / hypogonadism

– CPAP overnight for OSA symptoms