Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome is a rare, genetic disorder caused by a definciency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. Which is an X-linked recessive disease. LNS is characterized by self-mutilating behaviors such as lip and finger biting and/or head banging. (Shown in this photograph along with the second). Symptoms of LNS usually appear between the ages 3 and 6 months old. First symptom to appear is the presence of orange-colored crystal-like deposits in their diaper. That is from the increased level of uric acid in the urine, which will damage the kidneys by forming kidney stones. Other symptoms include kidney stones, blood in urine, pain and swelling in joints, difficulty swallowing(dysphagia) and eating, vomiting, impaired kidney function, irritability, uncontrolled aggressive and/or compulsive actions, muscle weakness(hyptonia), uncontrolled spastic muscle movements, and neurological problems as involuntary writhing movements of arms or legs(athetosis), and purposeless repetitive movements(chorea) such as shoulder raising and lowering and/or facial gimacing. Moderate mental retardation is also common. This disease actually affects 1 in the 400,000 live births.

This syndrome was first described in 1964 by Doctors Michael Lesch and William Nyhan. They found that the disease was inherited through a carrier, the mother, who herself can be perfectly healthy and can affect 50 percent of her male children. She will also pass the disease onto her daughters by making them carriers. Other than the use of the drug allopurinol to prevent kidney damage, it has not yet been possible to develop effective therapy for the behavioral and neurological problems. Allupurinol is enormously effective in reducing serum concentrations of uric acid and so can control all manifestations of the disease directly attributable to uric acid-features that the disease shares with gout. Patients no longer suffer from arthritis, have tophi, or die of nephrophathy, and renal calculi can largely be prevented.

These are two great boys that have been through a few surgeries to remove their teeth, but they have thanked their mother and father since because they aren't able to do to themselves what the other two pictures have done. That is telling you something when this seven and eleven year old know what their disease is all about and know that they are better off because of a few easy decisions by the parents of children with Lesch-Nyhan disease.

Here are some websites to find out more about this disease!

http://www.ninds.nih.gov/patients/Disorder/Lesch-Nyhan/Lesch-Nyhan.htm

http://www.nejm.org/content/1996/0334/0024/1602.asp

http://www.findarticles.com/cf_dls/g 2601/0008/2601000820/pl/article.jhtml?term=Lesch-Nyhan

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