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Case report: the Lesch-Nyhan syndrome
C M Benz1, A M Reeka-Bartschmid, F G Agostini
1Paediatric dentist, Landshut, Germany.
European Journal of Paediatric Dentistry
|June 19, 2004
Summary
Lesch-Nyhan syndrome (LNS) patients may exhibit self-harming behaviors. Dental extraction of primary teeth in a young LNS patient reduced oral self-injury but self-mutilation persisted through other means.
Area of Science:
- Genetics
- Metabolic Disorders
- Pediatric Dentistry
Background:
- Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder of purine metabolism.
- It results from the absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT).
- Self-destructive behaviors are characteristic of LNS.
Observation:
- A 2-year-old boy with LNS presented with severe lip and tongue biting.
- Despite arm cuffs, self-mutilation continued, necessitating dental extraction.
- The patient had a history of muscular hypotonia diagnosed at four months.
Findings:
- Extraction of all primary teeth was performed to prevent further medical complications.
- One year post-extraction, the patient showed no oral bite injuries.
- However, the self-mutilating behavior shifted to self-injury using fingers.
Implications:
- Dental interventions may reduce specific self-harming behaviors in LNS patients.
- The underlying self-mutilation tendency in LNS requires ongoing management strategies.
- This case highlights the complex management challenges in pediatric Lesch-Nyhan syndrome.