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• W1878833730 abstract "Lesch-Nyhan syndrome (LNS) is an X-linked disorder originating from deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is characterized by neurological manifestations, including the dramatic symptom of compulsive self-mutilation, which results in destruction of oral and perioral tissues. Several drug trials have been administered to improve the severe self-destructive behaviour, with questionable effectiveness. Invasive treatment approaches, such as extraction of teeth and orthognathic surgery, have been suggested with variable success. A conservative treatment with an intraoral appliance serving to prevent oral and peri-oral self-injury is presented in this report. The patient was a 14-year-old boy demonstrating the typical LNS behaviour, including compulsive self-biting, significant loss of lip and tongue tissue, spasticity and involuntary movements. An acrylic maxillary appliance was designed and constructed with an occlusal plate raising the bite. The appliance was retained by two Adams' clasps on the first premolars, along with three ball clasps between the incisors. Fabrication, insertion, and maintenance were uncomplicated and non-stressful to the patient. Periodic recall over 3-year period has confirmed the effective healing of the oral lesions and a high level of tolerance of the appliance." @default.
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• W1878833730 date "2010-11-16" @default.
• W1878833730 modified "2023-09-28" @default.
• W1878833730 title "Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report" @default.
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• W1878833730 doi "https://doi.org/10.1111/j.1600-9657.2010.00930.x" @default.
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