Lesch-Nyhan Syndrome Case with Difficult to Prevent Self-mutilation

Abstract

Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism caused by a deficiency of hypoxanthine guanine phosphoribosyltransferase. Affected patients are characterized clinically by hyper-uricemia, mental retardation, involuntary movements, and self-mutilation. We began treatment of a 1-year-9-month boy with Lesch-Nyhan syndrome in whom difficulty in preventing self-mutilation behavior was noted, which resulted in severe lower middle lip destruction. At the age of 4 years, the lower right side lateral deciduous incisor and deciduous canine became extruded due to bruxism from daily clenching. We attempted to reduce oral stress by concomitant use of soft-type and hard-type mouth guards, however, the maxillary dentition expanded and biting of the buccal mucosa was recognized. Thereafter, the patient became accustomed to a hard-type mouth guard and recently has not demonstrated excessive self-mutilation behavior leading to a large amount of oral destruction. Nevertheless, continued observations are required.