Semi-Fixed Lip Bumper in Lesch-Nyhan Syndrome: An Interim Treatment Modality / 대한소아치과학회지

ABSTRACT

Lesch-Nyhan syndrome is a rare X-linked, recessively inherited disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. This syndrome is characterized by 3 major features neurological dysfunction, hyperuricemia, and cognitive and behavioral disturbances (e.g., self-mutilation, which begins at 2 to 3 years of age). Uncontrollable self-mutilation begins with biting of the perioral tissues and extends into patterns such as finger biting and head hitting. This report describes the case of a 31-month-old boy who was diagnosed with Lesch-Nyhan syndrome with severe lip injuries caused by self-mutilative behaviors. The behaviors were blocked with a semi-fixed lip bumper for a short period. The device was applied to the patient on the day of the visit without the requirement for an oral impression. It was easy to manage oral hygiene and adjust the device because it was detachable by clinicians and guardians. Therefore, a semi-fixed lip bumper may be useful as an interim appliance to block self-mutilative behaviors in children with Lesch-Nyhan syndrome.