Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report

Abstract

Introduction: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compulsive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions.

Objective: To present a clinical case of LNS and describe pediatric dentistry management in patients with selfmutilating behavior.

Clinical Case: Male patient, 7 years old, LNS carrier. He was referred to the Dental Unit from the Department of Pediatric Neurology for evaluation and management of selfinflicted
wounds on fingers, lips and cheeks associated with weight loss and decreased food intake.
The surgical procedure consisted of multiple extractions, surgical remodeling of the residual alveolar ridges under general anesthesia. In the second postoperative month, the patient was discharged definitively, with an adequate nutritional status and no signs of self-mutilation in hands or oral cavity.

Conclusions: Although LNS is rare, it is essential to know how to proceed in order to provide the best quality of life for patients and their families. Early tooth extractions, as an initial phase in severe cases, seem to be the most useful alternative to minimize damage.