Lesch-Nyhan Syndrome Symptoms
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Symptoms of Lesch-Nyhan Syndrome
The first symptom of Lesch-Nyhan syndrome is orange-colored crystal-like deposits in the diaper. This may occur in children as young as three months. These deposits are caused by increased uric acid in the urine. Other symptoms include:
- Irritability
- Nervous system impairment:
- 4 to 6 months-lack of muscle tone and inability to lift the head
- 6 months-unusual arching of the back
- 9 months-inability to crawl or stand
- 12 months-inability to walk
- 12+ months-spasms of the limbs and facial muscles
- Kidney Stones
- Blood in the urine
- Pain and swelling of joints
- Difficulty swallowing ( Dysphagia )
- Impaired kidney function
- Self-injury
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Self-Injury
Self-mutilation behavior is the hallmark of this disease. Children begin to bite their fingers, lips, and the insides of their mouths as early as two years old.
As children grow, self-injury becomes increasingly compulsive and severe. Eventually, mechanical physical restraints will be necessary to prevent head and leg banging, nose gouging, loss of fingers and lips from biting, and loss of vision from eye rubbing, among others. In addition to self-injury, older children and teens will become physically and verbally aggressive.
The cause of these behaviors is not entirely understood. However, some experts believe it is related to abnormalities in brain chemicals called neurotransmitters. It should be stressed that the child does not want to hurt himself or others, but is incapable of preventing these behaviors. People with Lesch-Nyhan syndrome have been described as “doing the opposite” of what they really want.
