Lesch-Nyhan syndrome occurs in approximately 1 in 380,000 individuals. It affects people of all ethnic backgrounds. A mutation in the HPRT1 gene on the X chromosome causes the syndrome. Because Lesch-Nyhan syndrome is an X-linked disorder, it occurs most often in boys.
Symptoms of Lesch-Nyhan Syndrome
An infant born with Lesch-Nyhan syndrome appears normal at first. Beginning around age 3 to 6 months, however, he starts to develop symptoms such as:- weak muscle tone (he has difficulty holding up his head or sitting)
- uncontrollable, abnormal muscle movements (flexing, jerking, flinging, or flailing)
- muscle stiffness
- urine that looks like it contains orange sand (uric acid crystals in the urine)
- difficulty speaking
- severe gout
- kidney problems
- compulsive self-injury (banging the head, or biting the lips, tongue, and fingers)
Diagnosis
Diagnosis of Lesch-Nyhan syndrome is usually suggested by the child’s symptoms, such as abnormal muscle movements. Parents may notice the "orange sand" in an infant's diaper, for example.A blood or urine test can check uric acid levels. Another blood test can be conducted to check HPRT enzyme levels and confirm a diagnosis (a low level would mean testing positive for Lesch-Nyhan syndrome.) DNA testing can also be done to look for mutation in the HPRT1 gene -- another way to confirm diagnosis.
Treatment
There are no specific treatments for Lesch-Nyhan syndrome. Allopurinol (Aloprim) can help lower the amount of uric acid in the body to help prevent related kidney and joint damage, but it cannot correct the symptoms of the syndrome itself. Medication such as baclofen (Lioresal) may be given to manage muscle spasms.If kidney problems develop, they will need to be treated. But many individuals with Lesch-Nyhan syndrome die from kidney failure. Restraints may be used to reduce self-mutilating behaviors.
Sources:
"Lesch-Nyhan Syndrome Information Page." Disorders. 13 Feb 2007. National Institute of Neurological Disorders and Stroke. 11 Aug 2007.
"Lesch-Nyhan Syndrome." Genetics Home Reference. 31 Aug 2007. U.S. National Library of Medicine. 4 Sep 2007.
