J Korean Dent Sci.  2023 Dec;16(2):204-210. 10.5856/JKDS.2023.16.2.204.

Lesch-Nyhan Syndrome in Two Brothers: Dental Approach to Prevent Injuries Caused by Self-mutilative Behaviors

• Jeong G
• Jih M
• Shin H
• Lee N

• KMID: 2549615
• DOI: http://doi.org/10.5856/JKDS.2023.16.2.204

Abstract

Lesch-Nyhan syndrome is a rare X-linked recessive disorder characterized by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, which is important in the metabolism of purines. Prevalence of LeschNyhan syndrome is 1:100,000 to 1:380,000 live births, and Lesch-Nyhan syndrome mainly affects males. It is characterized by neurologic dysfunction, uric acid overproduction, and cognitive and behavioral disturbances. The selfmutilation is the most distinctive symptom in Lesch-Nyhan syndrome, appearing about 1 year of age. It is expressed as persistent bites in the oral mucosa, tongue, lips, and fingers, which leads to the total or partial destruction of the affected tissues. Several medical and dental management methods might be performed in Lesch-Nyhan syndrome patients. Dental approaches to prevent injuries caused by self-mutilation include treatments with oral appliances such as mouth guards or lip bumpers, extraction, and orthognathic surgery. This report described two brothers with Lesch-Nyhan syndrome, who injured themselves on oral tissues. The methods of tooth reduction and extraction were performed to prevent injuries caused by self-mutilation.

Keyword

Dental approaches; Extraction; Lesch-Nyhan syndrome; Self-mutilation; Tooth reduction