Symptoms:

The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, kidney and bladder stones develop because of the high uric acid levels.

Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained. It is unknown how the enzyme deficiency causes these problems.

Signs and tests:

There may be a family history of this condition.

The doctor will perform a physical exam. The exam may show:

• Overexaggerated reflexes
• Spasticity

Blood and urine tests may reveal high uric acid levels. A skin biopsy may show decreased levels of the HGP enzyme.

Treatment:

No specific treatment exists for Lesch-Nyhan syndrome. The gout medication, allopurinol, successfully decreases uric acid levels, but does not improve the neurological outcome.

Some symptoms may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

Expectations (prognosis):

The outcome is likely to be poor. Persons with this syndrome usually require assistance walking and sitting and generally need a wheelchair to get around.

Complications:

Severe, progressive disability is likely.

Calling your health care provider:

Call your health care provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family.

Prevention:

Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. Testing can be done to see if a woman is a carrier of this syndrome.