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KMID : 1144020060020020147
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Journal of Korean Association for Disability and Oral Health
2006 Volume.2 No. 2 p.147 ~ p.152
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A PRESERVATIVE APPROACH TO PREVENTION OF SELF-MUTILATION IN PATIENT WITH LESCH-NYHAN SYNDROME ; A CASE REPORT
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Kang Dong-Kyun
Kim Tae-Wan
Kim Young-Jin
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Abstract
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Lesch-Nyhan syndrome is rare X-linked genetic disorder involving absence of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT) related to purine metabolism. The deficiency of HGPRT activity leads to an excesscive uric acid production and consequent hyperuricemia. It occurs almost exclusively in males, and the incidence is estimate to be 1/100,000~380,000. Clinical presentation is characterized by developmental delay, mental retardation, choreoathetosis, spastic cerebral palsy, nephrolithiasis, obstructive nephropathy and acute gouty arthritis. A characteristic feature of Lesch-Nyhan syndrome is the appearance of intractable self-mutilation behavior. Self-mutilation behavior is complicated by secondary infection and tissue loss as well as pain. The dental management of self-mutilation includes presertive methods of using appliances such as lip bumper or soft mouthguard and radical methods such as extraction of all teeth or orthognathic surgery. A case of Lesch-Nyhan syndrome patient with self-mutilation and severe lower lip injury is presented. He was treated successfully with soft mouthguard.
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KEYWORD
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Lesch-Nyhan syndrome, Self-mutilation, Soft mouthguard
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