A modified intraoral resin mouthguard to prevent self-mutilations in lesch-nyhan patients.

Giulia Ragazzini,Alessia Delucchi,Gloria Denotti,Enrico Calcagno,Roberto Servetto

doi:10.1155/2014/396830

Giulia Ragazzini, Alessia Delucchi + Show 3 more

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https://doi.org/10.1155/2014/396830

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Abstract

Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder, occurring in 1 : 100000 to 1 : 380000 live births. LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme involved in purine metabolism, resulting in overproduction of uric acid. Hyperuricemia and neurological features including choreoathetoid spasticity, self-mutilation, and mental retardation clinically characterize this syndrome. In LNS patients the typical feature is loss of tissue from biting themselves with partial or complete amputation of fingers, lips, and tongue. The self-mutilation compares with the eruption of the deciduous teeth. Several drugs trials have been administered to improve self-destructive behavior and invasive treatment approaches, such as extractions of teeth and orthognathic surgery, have been suggested with variable effectiveness. Nowadays prevention is, therefore, the standard of care. The role of dentistry is essential in the management of the self-mutilating behavior, because the teeth represent the main self-injury instrument. This report presents a revision of various therapeutic approaches to manage self-destruction, highlighting the effectiveness of a preventive treatment. It describes a new technique: a resin mouthguard, realized at Gaslini Hospital, to obtain immediate healing of the oral lesions, confirmed in the follow-up period.

Highlights

Lesch-Nyhan syndrome was first recognized and clinically characterized in 1964 by Lesch and Nyhan [1], observing two affected brothers
LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme involved in purine metabolism, resulting in overproduction of uric acid
The hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme involved in purine metabolism, which catalyses the condensation reaction which combines phosphoribosyl pyrophosphate (PRPP) and the purine bases hypoxanthine and guanine to form the respective nucleotides, inosinic acid, and guanylin acid

Summary

Introduction

Lesch-Nyhan syndrome was first recognized and clinically characterized in 1964 by Lesch and Nyhan [1], observing two affected brothers. It occurs in 1 : 100000 to 380000 male live births. The HGPRT deficiency causes a backlog of guanine and hypoxanthine that oxidize in uric acid and an increase of intracellular PRPP with a consequent major production of new purine. It results in an overproduction and accumulation of uric acid, which, if untreated, usually leads to renal failure and death in early childhood

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