What is the definition of Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body builds and breaks down purines. Purines are a normal part of human tissue that help make up the body's genetic blueprint. They are also found in many different foods.

What are the causes for Lesch-Nyhan Syndrome?

Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait. It occurs mostly in boys. People with this syndrome are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.

What are the symptoms for Lesch-Nyhan Syndrome?

Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop.

People with Lesch-Nyhan have delayed motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior, including chewing off fingertips and lips. It is unknown how the disease causes these problems.

What are the current treatments for Lesch-Nyhan Syndrome?

No specific treatment exists for Lesch-Nyhan syndrome. Medicine for treating gout can lower uric acid levels. However, treatment does not improve the nervous system outcome (for example, having increased reflexes and spasms).

Some symptoms may be relieved with these medicines:

  • Carbidopa/levodopa
  • Diazepam
  • Phenobarbital
  • Haloperidol

Self-harm can be reduced by removal of teeth or by using a protective mouth guard designed by a dentist.

You can help a person with this syndrome using stress-reduction and positive behavioral techniques.

What is the outlook (prognosis) for Lesch-Nyhan Syndrome?

The outcome is likely to be poor. People with this syndrome usually need help walking and sitting. Most need a wheelchair.

What are the possible complications for Lesch-Nyhan Syndrome?

Severe, progressive disability is likely.

When should I contact a medical professional for Lesch-Nyhan Syndrome?

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

How do I prevent Lesch-Nyhan Syndrome?

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.

REFERENCES

Harris JC. Disorders of purine and pyrimidine metabolism. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 108.

Katz TC, Finn CT, Stoler JM. Patients with genetic syndromes. In: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, eds. Massachusetts General Hospital Handbook of General Hospital Psychiatry. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 35.

  • Condition: Self-injurious Behaviors in Children with Neurodevelopmental Disorders (NDDs)
  • Journal: Pharmacotherapy
  • Treatment Used: Behavior Therapies and Pharmocotherapy
  • Number of Patients: 0
  • Published —
This article discusses the management of self-injurious behaviors in children with neurodevelopmental (NDDs) disorders.

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.