Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report. / Síndrome de Lesch-Nyhan y automutilación oral. Reporte de un caso.

INTRODUCTION: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive 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 self-mutilating 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 self-inflicted 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.

Síndrome de Lesch-Nyhan y automutilación oral. Reporte de un caso / Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report

Resumen: Introducción: El síndrome de Lesch-Nyhan (SLN) es un trastorno hereditario recesivo relacionado con el cromosoma X, causado por la deficiencia de la enzima hipoxantina-guanina fosforribosil transferasa (HPRT). La automutilación compulsiva y distonía ocurre antes del año de edad y se expresa con mordeduras persistentes en la mucosa oral, labios, lengua, dedos y hombros. La intervención odontológica realizada en la mayoría de estos pacientes es la extracción dental múltiple para prevenir lesiones graves secundarias. Objetivo: presentar un caso clínico de SLN y describir el manejo odonto-pediátrico en pacientes con conducta automutilatoria. Caso clínico: Paciente varón, 7 años de edad, portador de SLN. Fue referido a la Unidad de Odontología desde el Departamento de Neurología Pediátrica para la evaluación y manejo de heridas autoinfligidas en dedos, labios y mejillas asociadas a una pérdida de peso y disminución de la ingesta de alimentos. El procedimiento quirúrgico consistió en extracciones dentales múltiples, y remodelación quirúrgica de las crestas alveolares residuales, bajo anestesia general. Al segundo mes posquirúrgico el paciente fue dado de alta definitivamente, con un adecuado estado nutricional y sin signos de automutilación en manos ni en cavidad oral. Conclusio nes: A pesar, que el SLN es infrecuente, es esencial saber cómo proceder para dar la mejor calidad de vida a los pacientes y sus familias. Las extracciones tempranas del diente, como fase inicial en casos severos, parecen ser la alternativa más útil para minimizar el daño y el dolor por la automutilación.

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). Compul sive 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 self-mutilating 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 self-inflicted 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.