Prader-Willi Syndrome

Question 1

What is Prader-Willi Syndrome?

Answer 1

Prader-Willi Syndrome is an imprinting disorder affecting 15q11. Reciprocal changes are seen to those in Angelman Syndrome:

• Maternal uniparental disomy (P-W) v. Paternal uniparental disomy (Angelman)
• Large deletions of paternal 15q11 (P-W) v. Large deletions of maternal 15q11 (Angelman)

Reference: The Science of Paediatrics [1st Edition], p. 154-155.

Question 2

How does Prader-Willi Syndrome present?

Answer 2

Prader-Willi Syndrome presents with:

Neonatal

Severe hypotonia

Poor feeding

Infancy

Hyperphagia

Obesity

Mild-moderate learning difficulties

Other

Hypogonadotrophic hypogonadism (>80% males)

Think: Prada - like fine things in life, gorge on food > obese. Clothes no longer fit. Small Willi!