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Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome Poster Child
Ernie Burford

Introduction

Lesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral problems. The symptoms of LNS typically appear between ages 3 and 6 months; the presence of orange-colored crystal-like deposits (orange sand) in the child’s diaper is usually the first symptom to appear in those affected with the syndrome.

LNS is caused by a mutation in the HPRT gene on the X-chromosome, resulting in a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is involved in the recycling of purines. When the body is unable to recycle these purines, there is a dramatic overproduction of uric acid, which then leads to hyperuricemia. Hyperuricemia can result in gouty arthritis, tophi (lumpy deposits of uric acid crystals just under the skin) and kidney stones.

LNS has been reported to occur in 1 out of every 100,000 live births. It is estimated that there are only several hundred individuals with the disorder in the United States. LNS has been found equally among all races and ethnic groups, however as an X-linked disorder, nearly all cases are male. LNS can either be inherited or it can occur as a spontaneous (or new) mutation.

LNS was first described by Michael Lesch, M.D. and William Nyhan, M.D., Ph.D. in 1964 when they reported two affected brothers. The enzymatic defect was discovered by Seegmiller and colleagues in 1967. Finally, the gene responsible for LNS was cloned and sequenced by Friedmann and colleagues in 1985.

 

Features and Characteristics

The following characteristics have been identified in individuals with LNS:

 

Diagnosis

The overproduction of uric acid is often evident in urine studies and uric acid levels in the blood are typically elevated. However, there are many different causes of hyperuricemia (other than LNS) and some patients with LNS actually have serum uric acid levels that fall into the normal range. Therefore, the detection of hyperuricemia in the blood or urine does not provide reliable diagnostic information. Therefore, a definitive diagnosis of LNS can be obtained by the measurement of the HPRT enzyme in the blood or tissue, or by determining a molecular genetic mutation in the HPRT gene.

 

Treatment

The treatment for LNS is symptomatic:

Hyperuricemia - As mentioned earlier, if hyperuricemia is left untreated, it can result in the production of kidney stones with renal failure, gouty arthritis, and tophi deposits. Therefore, a medication called allopurinol is used to control the overproduction of uric acid, which reduces the risk of developing the symptoms described above.

Spasticity - Spasticity can be treated with a combination of baclofen and benzodiazepines.

Behavioral abnormalities - By four years of age, the child with LNS typically begins to exhibit signs of self-mutilation (i.e., lip biting, finger biting, and head banging). These behaviors and others are best managed with behavioral modification techniques and medications. In addition, in most cases, some form of protective restraint device becomes necessary to protect the individual from seriously injuring himself. Individuals with LNS do not want to injure themselves and can become extremely upset and fearful when left unrestrained or unprotected. While a restraint device may appear too restrictive, the device can actually have a very positive effect; it can reduce the stress and fear of self-injury and allow the individual to concentrate on constructive activities rather than destructive activities. And, in some instances, the individual with LNS can be taught to request the device when they are feeling more likely to attempt self-injury.

In addition to injuring themselves, individuals with LNS also have a compulsion to injure others such as parents, teachers, and aides. Behaviors may include kicking, head butting, spitting or vomiting on care providers. After such behaviors, the individual is usually very apologetic, however, he will likely repeat the behavior again shortly thereafter. An approach that has been found to be successful in some circumstances is called selective ignoring. This process requires others to act as if the behavior is not happening (as long as the individual has appropriate protective devices). Parents or care providers give no type of response to the behaviors, verbal or otherwise, as this may increase the undesirable behaviors. Instead, when ignored, the behaviors have been known to decrease. On a positive note, the self-injurious behaviors tend to be less pronounced once the patient is older than 10-12 years of age.

 

What to Expect

If the overproduction of uric acid goes untreated and the acid is built up within the body, self mutilation will increase dramatically and the life expectancy is shortened significantly. Therefore, without allopurinol therapy, the life expectancy is generally less than 5 years of age. However, with allopurinol therapy, the life expectancy greatly increases to over 40 years of age.

 

Personal Stories

Ernie was diagnosed with Lesch Nyhan syndrome 16 1/2 years ago. He is now 17 years old. He is unable to sit unsupported or walk. He is totally dependent and must be fed, bathed, diapered, dressed, and protected from himself. Ernie has almost all of the hallmark symptoms of Lesch Nyhan. He occasionally has orange sand in his diapers, has moderate mental retardation, is extremely self-injurious, and he attempts to injure others. He also has spasticity, speech impairment, difficulty swallowing and he swears. He wears protective devices on his arms to prevent biting of hands and fingers, and mittens on his hands secured with tape. His hands are also secured to the sides of his wheelchair to prevent flaring of the arms. His feet must be secured to the footrest to prevent flaring of his legs and feet. He also wears a helmet as needed to protect from head banging. There can be no exposed hardware or metal of any type on his custom designed wheelchair, as he will use this to injure himself. All of this, just for daily protection. He sleeps in a custom made bed (designed and built by his wonderful grandfather), which has gated sides that fold down when he needs assistance. All sides of the bed are padded first with carpet padding then covered with the softest, most plush material we could find - again so that he does not hit and kick the sides of the bed to cause injury. He loves his protective bed!

Ernie is a very cheerful, sociable, fun-loving young man, who attends the local high school, enjoys watching basketball and football and listening to music (just about any type), working on the computer or laptop, and going to school, movies, and Wal-Mart! He is able to laugh at himself and with others. His speech is easily understood at times and not so easily other times; it depends on how excited or nervous he may be. (However, it's amazing how clear the profanity is expressed!!) He is very limited to physical activities as he needs constant protection from himself and any type of equipment. Needless to say, he requires 24-hour supervision.

Every day brings on a new challenge - be it a new injury, doctors, medication, test results, school, equipment - you get the picture. Ernie is simply cherished, adored, spoiled, and loved beyond belief by his parents, grandparents and extended family. He brings much joy, laughter, and many challenges to our lives, but we have simply adjusted over 17 years and look forward to enjoying a long life with him. - Shawna Rochon

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with Lesch-Nyhan syndrome, you can contact the International Lesch-Nyhan Disease Association at (215) 677-4206.

For more information on LNS, please see the following references:

 

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