Lesch–Nyhan syndrome: a preventive approach to self‐mutilation

Abstract

Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behaviour, which results in partial or total destruction of oral and perioral tissues and/or fingers and hands. Prevention of self-mutilation raises significant difficulties. Treatment modalities include drug therapy, extraction of teeth, oral appliances and orthognathic surgery, all with variable success. A case of a 10-year-old boy with aggressive behaviour and severe lower lip injuries is presented. A palatal plate fabricated to raise the anterior bite proved to have satisfactory results. Although two adjustments were required during the recall visits, the effectiveness of the appliance in assisting healing of soft tissue damage was immediate and still apparent during the 3 years and 8 month follow-up period.

Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior

“…However, oral injuries, and especially those of the lower lip and tongue, can still occur. Conservative modalities such as a mouthguard, bite guard, lip bumpers, or bite planes have been tried in the past but they have not been effective (9)(10)(11). Extraction of both primary and permanent teeth may be the ultimate solution in most cases (2,5,6).…”

Síndrome de Lesch Nyhan e Odontologia: relato de caso

“…Existem diferentes abordagens de tratamento para gerir as manifestações da síndrome de Lesh Nyhan, que incluem tratamentos conservadores como o uso de medicamentos e/ou colocação de aparelhos orais, e terapias mais agressivas como extrações dentárias e cirurgia ortognática, onde todos são relatados com sucesso variável (FARDI et al, 2003).…”

“…As extrações das unidades dentárias decíduas e/ ou permanentes podem ser realizadas como tratamen-to e prevenção do comportamento de auto mutilação, visto que as lesões promovidas pelo próprio pacientes são dolorosas, extensas e/ou profundas, com risco de evolução para infecções secundárias (FARDI et al, 2003;DABROWSKI et al, 2005). Evans et al (1993), descrevem o comportamento auto mutilante e condutas de tratamento em um paciente de 11 anos de idade, com a síndrome de Lesch Nyhan, com hábitos de auto mordidas persistentes em lábio inferior e região jugal.…”

“…O Alopurinol é uma droga usada para reduzir o ácido úrico e impede o desenvolvimento de lesão renal e músculo esquelética levando a um significativo aumento da expectativa de vida, pois retarda a falência renal, que é a causa mais comum de morte na primeira infância (FARDI et al, 2003;ARHAKIS et al, 2013).…”

Endoscopic Goniosynechialysis for Acute Angle Closure Glaucoma Following Descemet\'s Stripping Automated Endothelial Keratoplasty

“…Treatment of such a condition has varied from very conservative methods, such as grinding the tooth surfaces, 4 placement of composite on incisal edges of teeth, 5 performing formocresol pulpotomies and crown amputations, 6 to more radical ones like extraction of the offending teeth. 7,8 Placement of intraoral splints too has been successfully attempted, 9,10 though retention, prevention of risk of inadvertent ingestion, and compliance of child always remain a challenge. To relieve the child of pain, extraction of teeth is usually the last alternative a clinician explores, especially in the absence of equally predictable results with other management strategies.…”