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 an individual
with mental retardation, obesity, a short stature overeating 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 (hypersomnia).
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. |
