| Literature DB >> 16903443 |
Tae-Sung Jeong1, Ji-Hyun Lee, Shin Kim, Ji-Hoon Kim, Ruwaida G H Tootla.
Abstract
Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. Persons affected with this incurable disease are developmentally and physically delayed, and suffer from self-injurious behavior. The most typical feature results in partial or total destruction of perioral tissues. The purpose of this paper was to discuss a case of Lesch-Nyhan syndrome with self-mutilative behavior and lip injuries, including some suggestions of a preventive approach avoiding the extraction of teeth. A soft mouthguard fabricated to prevent the destruction of perioral soft tissues and combined psychiatric pharmacologic therapy proved to have satisfactory results.Entities:
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Year: 2006 PMID: 16903443
Source DB: PubMed Journal: Pediatr Dent ISSN: 0164-1263 Impact factor: 1.874