Prader-Willi Syndrome: A Rare Disorder In Children

     Prader-Willi Syndrome (PWS) is a disorder caused by abnormalities in a group of genes on chromosome 15, leading to dysfunction in certain brain parts. A key affected area is the hypothalamus, which plays a crucial role in regulating the secretion of several important hormones, including growth hormone, thyroid hormone, adrenal hormones, and sex hormones. This hormonal imbalance results in a wide range of clinical symptoms.

Symptoms of Prader-Willi Syndrome

• Excessive eating, leading to obesity
• Short stature
• Poor muscle tone (hypotonia)
• Delayed development and learning difficulties
• Delayed onset of puberty; menstruation typically begins very late, often after age 30, and most individuals are infertile
• Behavioral problems, such as aggression
• Lighter skin, hair, and eye color compared to the general population

Associated Conditions

     Prader-Willi Syndrome may also be associated with autism, as is the case with several other chromosomal disorders. Chromosomal testing is recommended, and consultation with a specialist in pediatric genetics is advised.

There is currently no cure, but the condition can be managed

Although Prader-Willi Syndrome cannot be cured, appropriate management can help prevent complications. Recommended strategies include:

• Careful dietary management to avoid excessive weight gain
• Administration of growth hormone to enhance muscle mass and height, under the care of a pediatric endocrinologist
• Measures to prevent and manage behavioral issues