LESCH NYAN SYNDROME
Lesch nyan syndrome :-
Definition :-
This is a syndrome also know as self mutilating syndrome , which is a type hyperurecemia . This is a disorder which occurs mainly in males in which there will be behavioral and psycological changes .
NOTE :- Hyperurecemia - means increased uric acid levels in the body .
Causes :-
- Defeciency of hgprt is the main cause , hgprt - hypoxanthine guanine phosphoribosyl transferase .
Symptoms / Characteristics :-
- Aggressiveness
- Decreased IQ
- Not able to understand things quickly
- Not able of learn things quickly
- self mutilation is striking symptoms of lesch nyan syndrome - like lip biting , nail biting and etc till blood does not come .
- Head banging
- Mental retardation
- Gout
- Seizures
- Microcephaly - Brain does not develop properly as normal person so the head is smaller when compared to a normal person .
Pneumonic :-
Treatment :-
As of now there is no treatment for the disease but , the symptoms can be treated .
- Allopurinol - which in the form of alloxanthine prevents the increase of uric acid .
- using medicine like diazephen , haloperidol , phenobarbital .
- The life expectancy of the patient after the treatment is mid 20 s .
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