Lesch nyhan syndrome is a genetic disorder that develops when purines are broken down incorrectly. Purines are nothing but part of tissue tht is required for body building. Purines are also present in many food stuffs. This disorder is inherited by the child from his parents through X linked chromosome. This syndrome develops mostly in boys.
Causes :
This disorder is hereditary and passed on to children through chromosomes. It is inherited through X-linked trait in boys. The child will not have some enzyme to rebuild purines. Lack of hypoxanthine guanine phosphor bosyl transferase 1 causes this disorder.
Symptoms :
The child affected with L.N. Syndrome will have increased quantity of uric acid in blood. Swelling in joints is another symptom for identifying this disorder. Some may have Kidney Stones due to excess of uric acid. High uric acid level may lead to hyperuricemia, a condition which may cause renal failure, if left untreated.
The child will have both neurological as well as psychological problem. He or she may be impulsive or aggressive in behavior.
Some children will have developmental problem in motor skills and will exhibit increased reflexes and abnormal movements.
Another important sign of LN syndrome is self destruction. The child will unknowingly, bite his lips and fingertips causing self injury.
Diagnoses :
Your doctor will look for spasticity and exaggerated reflexive actions in the body. If needed, skin biopsy is done for measuring the levels of HGP enzyme. He would also do blood and urine test for checking the level of uric acid.
Treatment :
LN syndrome cannot be cured since it is congenital disorder (inherited by birth).
Doctors may prescribe allopurinol to lower the uric acid level in blood. Pills like diazepam and haloperidol are given to control neurological and psychological issues.
Spasticity can be controlled by giving baclofen and benzodiazepine. Behavioral problems can be dealt with counseling techniques combined with medicines.
Pictures of Lesch Nyhan Syndrome :
Images, Pics, Pictures and Photos of Lesch Nyhan Syndrome
Prevention :
If you are a parent with LN syndrome, then make sure that you do not have a child since it has increased chance for getting this disorder.
