Prader-Willi Syndrome

Question 1

What is this describing?

Loss of paternal genes in long arm of chromosome 15. Classic triad of hypotonia, obesity, and hypogonadism.

Answer 1

Prader-Willi syndrome

Question 2

What is this a presentation of?
Infant, hypotonia, poor feeding, slow growth, excessive appetite leads to obesity, hypogonadism, short stature, almond-shaped eyes, thin upper lip, challenging behaviour, sleep disorders.

Answer 2

Prader-Willi syndrome

Question 3

How is Prader-Willi syndrome diagnosed?

Answer 3

FISH and PCR

Question 4

What is the management for Prader-Willi syndrome?

Answer 4

1. Growth hormone
2. Avoid excessive weight gain through exercise and limiting food.
3. Life expectancy reduced due to obesity and gastric rupture.