Literature DB >> 18974538

Lesch-Nyhan syndrome: a case report.

A Kale1, K Shah, S Hallikerimath.   

Abstract

Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. It is a rare anomaly consisting of deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and accumulation of uric acid. No medical treatment exists to alleviate the symptoms of self-mutilation where direct dental intervention is the only way these behavior can be affected. A unique case of this type affecting a 6-year-old male child is reported.

Entities:  

Mesh:

Year:  2008        PMID: 18974538

Source DB:  PubMed          Journal:  J Indian Soc Pedod Prev Dent        ISSN: 0970-4388


  2 in total

1.  Lesch-Nyhan Syndrome in an Indian Child.

Authors:  Priyanka Chandekar; Bhushan Madke; Sumit Kar; Nidhi Yadav
Journal:  Indian J Dermatol       Date:  2015 May-Jun       Impact factor: 1.494

2.  Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome.

Authors:  Satyakam Mohapatra; Alok Jyoti Sahoo
Journal:  Indian J Psychol Med       Date:  2016 Sep-Oct
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.