Lesch-Nyhan's syndrome (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate-Editor(s)-In-Chief: Varun Kumar, M.B.B.S.

Overview

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

What are the symptoms of Lesch-Nyhan syndrome?

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.

What causes Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome is inherited as an X-linked trait. It mostly occurs in boys. Persons with this syndrome are missing or are severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HGP). The body needs this enzyme to recycle purines. Without it, abnormally high levels of uric acid build up in the body.

The condition affects about 1 in 380,000 people.

When to seek urgent medical care?

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.

Diagnosis

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 options

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.

Where to find medical care for?

Directions to Hospitals Treating Lesch-Nyhan syndrome

What to expect (Outlook/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.

Possible complications

Severe, progressive disability is likely.

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm