Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries

Gaetano Ierardo,Gian Luca Sfasciotti,Maurizio Bossù,Antonella Polimeni,Valeria Luzzi

doi:10.3390/app10113808

Gaetano Ierardo, Gian Luca Sfasciotti + Show 3 more

Open Access

https://doi.org/10.3390/app10113808

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Journal: Applied Sciences	Publication Date: May 30, 2020
Citations: 1	License type: CC BY 4.0

Affiliation: Sapienza University of Rome

Abstract

Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births. Males are affected and females are heterozygous carriers. LNS patients present a combination of hypotonia, spasticity, and neurological and behavioral disorders. They also show an obsessive-compulsive self-injurious behavior with bites and injuries to the lips, tongue, cheeks and fingers. The literature offers little scientific contribution related to the management of this problem. The authors describe their experience with a 4-year-old LNS patient and present a viable solution to control and avoid bite injuries, namely a specifically modified bite. The patient was treated at the Pediatric Dentistry Department of “Sapienza” University of Rome with a modified bite with the internal surface, in contact with the teeth, realized in 2-mm-thick soft silicone, and the exterior part consisting of a transparent resin shell with front and rear shields to separate lips and cheeks from the dental arches. At a 12-month follow-up visit, compliance was excellent: the child wore the device with regularity and without discomfort, even during soft-food feeding. No intraoral bite injuries were found, with a general improvement of the young patient’s quality of life.

Highlights

Lesch-Nyhan syndrome (LNS) is a severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder linked to mutations in the HPRT1 gene located at Xq26-27
LNS is characterized by uric acid overproduction (UAO), neurological and behavioral disorders
Manifestations of the disease begin to appear at 3–6 months of age with muscle hypotonia and difficulties in maintaining the sitting position and supporting the head

Summary

Introduction

Lesch-Nyhan syndrome (LNS) is a severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder linked to mutations in the HPRT1 gene located at Xq26-27. From the dental point of view, a review of the literature shows very few articles related to LNS, with no scientific protocols or guidelines, and only a few case reports describing the use of mouthguards or tooth extractions [8,9,10,11,12,13]. Most special needs patients are in treatment by the Department of Pediatrics, in particular at the Rare Diseases Department.

Results

Conclusion