Management and Prevention of Oral Self-Injuries in Lesch–Nyhan Syndrome

Giuliana Caserta,Patrizia Defabianis

doi:10.3390/reports1010008

Abstract

Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder with an incidence of 1/100,000–380,000 live births. It is characterized by neurological manifestations, including symptoms of compulsive self-mutilation, which result in the destruction of oral and perioral tissues. This report describes a case of a four-year-old boy diagnosed with LNS, who was referred for evaluation and treatment of self-injury behaviour (SIB). The parents requested the prevention of self-mutilation of the lower lip and tongue by the child’s own teeth. After a thorough discussion with the parents, it was agreed that a conservative approach, avoiding extraction, should be followed initially. A removable dental appliance was fabricated. The parents were instructed and trained about insertion, removal, and cleaning of the appliance. The child was re-examined after one week: biting of the lips and tongue improved immediately after the insertion of the appliances. Initial healing of the lesion was observed. After two and four weeks, positive results were seen. The lesion had resolved completely. In conclusion, appropriate preventive methods have to be developed for each individual patient on the basis of the observation of each single case. Oral appliances represent a conservative solution for SIB and an alternative to more invasive approaches. They can be the initial solution for the management of oral self-injury in LNS patients.

Highlights

Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder [1] that was first described in 1964
The excessive uric acid production, due to the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), forms urate crystals, which are deposited in peripheral organs and tissues and produce neurological, renal, and musculoskeletal manifestations, such as developmental delay, growth and intellectual disability, nephrolithiasis, obstructive nephropathy, and acute gouty arthritis [1,4]
Allopurinol is used for the pharmacological treatment of LNS; it reduces uric acid and prevents the development of renal and musculoskeletal injury, but it has no effect on the neurological manifestations and does not reduce the self-injuries behaviour [5,9]

Summary

Introduction

Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder [1] that was first described in 1964. Allopurinol is used for the pharmacological treatment of LNS; it reduces uric acid and prevents the development of renal and musculoskeletal injury, but it has no effect on the neurological manifestations and does not reduce the self-injuries behaviour [5,9]. Deon et al and Piedimonte et al described bilateral stimulation of GPi using a single electrode on each side of the brain to control patient motion and behavioural dysfunctions [19,20]. These studies demonstrate that deep brain stimulation may be used to treat the self-mutilating behaviour and dystonia associated with LNS. Botulinum toxin A injections into bilateral masseters have been described to reduce the self-abusive behaviour in LNS patients [17]

Case Presentation Section

Discussion

Conclusions