J Korean Assoc Oral Maxillofac Surg.  2023 Aug;49(4):228-232. 10.5125/jkaoms.2023.49.4.228.

Lesch–Nyhan syndrome: a case report

• Park HI
• Kim GH
• Ahn KM

• KMID: 2545590
• DOI: http://doi.org/10.5125/jkaoms.2023.49.4.228

Abstract

Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene. This syndrome is characterized by excessive production of uric acid, mental retardation, self-mutilation, choreoathetosis, and spasticity. The most distinctive symptom is compulsive self-mutilation. For patients with LNS, different methods have been tried to reduce self-biting behaviors including restraints, behavioral treatment, medications, deep brain stimulation, tooth extraction and botulinum toxin A injection. In this report, we present a case of LNS undergoing cheiloplasty due to self-mutilation and tooth extraction of the left deciduous maxillary canine.

Keyword

Lesch-Nyhan syndrome; HPRT1 gene; Self-mutilation; Lip biting; Tooth extraction

Figure

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  Fig. 1 Scar tissue removal. A. Marking of the scar tissue. B. Excision via electrocautery. C. Primary closure with absorbable suture. D. Excised lip scar.

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  Fig. 2 Lip defect and scar attributed to self-mutilation.

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  Fig. 3 Good healing observed one week after operation.

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  Fig. 4 Hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene mutation analysis. Blue arrow indicates the mutation of G to A.

Reference

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