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PRADER WILLIE
SYNDROME (PWS)
WHAT IS IT?
It is an eating disorder of the 15th
chromosome and appears in 1 of 12,000 to 15,000 births, appears equally in
both sexes and all races. Its more important characteristics are:
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Hypotonicity,
(flabbiness of the muscles). |
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Hypogonadism
(insufficient development of the genital). |
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Hyperphagia (to
eat without stopping). |
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Psychomotor
delay. |
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Abnormal
behaviors. |
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Morbid obesity
(very obese). |
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WHICH IS THE
CAUSE?
The cause is genetic from
genes not identified, attributed in 70% to the Father.
DIAGNOSTIC
The individuals who present
clinical suggestive history should be referred for the genetic test. The
analysis of methylation of the DNA confirms the diagnostic of the PWS.
The patients who had negative
or slightly conclusive tests with old methods should be reexamined.
All families must receive
genetic advice.
CLINICAL
PICTURE:
MAJOR SIGNS:
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Hypotonicity
central neonatal and infantile, improving with the age. |
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Problems of
nourishment. |
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Excessive or
quick increase of weight between 1 and 6 years of age. |
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Central obesity. |
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Facial
distinctive characteristics. |
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Narrow diameter
of the forehead. |
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Eyes in shape
of almond. |
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Small mouth with
superior thin lip and corners of the mouth drops. |
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Hypogonadism, even the
testicles do not descend and the penis is small, the gonad maturation is
incomplete and puberty gets late(after 16 years of age), whereas the women do
not menstruate or they menstruate very belatedly.
The delay in the global
development is seen before the 6 years of age; and to moderate their mental
delay or problems, they learn from older children.
The hyperphagia consists of
obsession for the food and to eat continually without control.
MINOR SIGNS:
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Low fetal
movement. |
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Infantile
lethargy. |
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Weak weeping. |
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Violent conduct. |
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Obsessive -
compulsive conduct. |
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Trend to be
argumentative, rigid, manipulative, possessive, and stubborn. |
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Disturbance of
sleeping. |
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Small stature for
same age. |
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Low pigmentation
of the skin. |
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Small hands
and/or feet for same age. |
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Thick, viscous
saliva with scabs in the corners of the mouth. |
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Disorders of the
language. |
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Retiring skin. |
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FOLLOWING:
THE DISORDER OF THE APPETITE IN THE PWS
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