Prader Willi Syndrome

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[edit] Prader Willi Syndrome

Prader Willi syndrome is found in 1 of 10,000 to 25,000 births. This is a chromosomal abnormality where a micro deletion occurred at chromosome 15 (15q11-q13) and this is caused by a defective paternal gene, which wipes out the health corresponding maternal copy. The end result is a mentally retarded individual who is obese, has small stature and overeats constantly. A mirror image of chromosome 15 (15q11-q13) micro deletion where the defective gene comes from the mother is called Angelman syndrome.

Signs and Symptoms

A baby with Prader Willi syndrome often presents as a breech delivery. In the newborn nursery the baby has no muscle strength (hypotonia), present s with feeding problems and has a low body temperature. The feet and hands are small in relationship to the rest of the body. The patient with Prader Willi syndrome appears to have no feeling of satiation and this is the reason why over the course of years obesity develops (fat boy eating).

As the child grows up the hypotonia problem disappears, but small stature, hypogonadism and obesity remain. This image depicts two boys of the same age, on the left is a child with Prader Willi syndrome, on the right a normal boy is depicted for comparison. The forehead is narrow, the face is long and the eyes are almond shaped. Patients have mental retardation that is mild to moderate and they seem to are sleeping longer than normal (hypersomnolence).

Treatment

As this is a genetic syndrome, there is no treatment for this condition. These individuals will need to live in a supportive environment and often end up in a specialized home that is equipped to deal with these patients.

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Chromosomal Abnormalities

References:

1. Behrman: Nelson Textbook of Pediatrics, 17th ed., Copyright © 2004 Saunders, An Imprint of Elsevier: Chapter 70 – Chromosomal Clinical Abnormalities

2. http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html