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