Prader
Willi SyndromePrader 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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