PREVENTION OF SELF-MUTILATION IN PATIENT WITH LESCH-NYHAN SYNDROME: A CASE REPORT

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Journal of the Korean Academy of Pediatric Dentistry 2005;32(2):306-311.
Published online May 31, 2005.

PREVENTION OF SELF-MUTILATION IN PATIENT WITH LESCH-NYHAN SYNDROME: A CASE REPORT

Lesch-Nyhan 증후군 환아의 자해 예방

이지현, 김지훈, 김재문, 김신, 정태성

부산대학교 의과대학 정신과학교실

Correspondence: ,

Abstract

Lesch-Nyhan syndrome is a rare disorder of purine metabolism, first described in 1964. The incidence is estimated to be 1:100,000 birth. It is an X-linked recessive disorder in which affected males have a virtually complete deficiency of the enzyme hypoxanthine guanine phosphorybosyl transferase(HGPT). This enzyme deficiency gives rise to excessive uric acid production and consequent hyperuricemia. Lesch-Nyhan syndrome is clinically characterized by mental retardation, choreoathetosis, spastic cerebral palsy, and severe self-mutilation behavior. Patient with Lesch-Nyhan syndrome mostly bite their lip, tongue and finger. In severe cases, partial or total amputation of the lip and tongue is common. Self-inflicted bites are often further complicated by secondary infection to injuried site as well as pain. And tissue loss by biting results in esthetic problems. This report presents a Lesch-Nyhan syndrome patient with self-mutilation, who have a destruction of perioral tissue, especially the lower lip. He was treated successfully with soft mouthguard, psychological and pharmacological method.

Key Words: Lesch-Nyhan syndrome, Mouthguard, Self-mutilation