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Background <p>Lesch-Nyhan syndrome (LNS) is an inherited, recessive, X-linked disorder attributed to a lack of hypoxanthine–guanine phosphoribosyl transferase (HGPRT), which is responsible for purine breakdown, leading to various degrees of the disease, ranging from mild to severe.</p> Case Presentation <p>An 8-year-old boy with LNS presented with severe self-inflicted injuries of catastrophic nasal deformity, oral mutilation, and hand and foot injuries due to uncontrollable self-biting.</p> Conclusion <p>LNS is a genetic disorder characterized by defects in purine metabolism. It can affect multiple systems, with the neurological system being the most prominently involved. In addition to severe destructive behavior, patients with LNS experience difficulties and limitations in management. A multidisciplinary healthcare team has a substantial role in the evaluation and management of this syndrome.</p>

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Catastrophic Nasal Destruction and Mutilations in Lesch-Nyhan Syndrome—A Case Report with Literature Review

  • 期刊论文

  • 发表日期：

    2025年8月26日

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  • Hussein A. El-Shirbeny,
  • Saad Elzayat,
  • Ahmed Walaa AbouSheleib,
  • Salma Elmetwally Kandil,
  • Abdullah Sobhy Alnmr,
  • Ahmed S. Abdelhamid

摘要

Background

Lesch-Nyhan syndrome (LNS) is an inherited, recessive, X-linked disorder attributed to a lack of hypoxanthine–guanine phosphoribosyl transferase (HGPRT), which is responsible for purine breakdown, leading to various degrees of the disease, ranging from mild to severe.

Case Presentation

An 8-year-old boy with LNS presented with severe self-inflicted injuries of catastrophic nasal deformity, oral mutilation, and hand and foot injuries due to uncontrollable self-biting.

Conclusion

LNS is a genetic disorder characterized by defects in purine metabolism. It can affect multiple systems, with the neurological system being the most prominently involved. In addition to severe destructive behavior, patients with LNS experience difficulties and limitations in management. A multidisciplinary healthcare team has a substantial role in the evaluation and management of this syndrome.