Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior.

Prasad Jathar,Madhura Jathar,Amey M Panse,Pritesh N Gawali

doi:10.5005/jp-journals-10005-1350

Prasad Jathar, Madhura Jathar + Show 2 more

Open Access

https://doi.org/10.5005/jp-journals-10005-1350

Copy DOI

Abstract

ABSTRACTLesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Prevention of self-mutilation raises significant difficulties. A case of a 10-month-old boy with aggressive behavior and severe lower lip injuries is presented.How to cite this article: Jathar P, Panse AM, Jathar M, Gawali PN. Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. Int J Clin Pediatr Dent 2016;9(2):139-142.

Highlights

In the world of developmental and physical disorders, none is stranger than Lesch–Nyhan syndrome (LNS)
Lesch–Nyhan syndrome is an extremely rare disorder that strikes the sufferer with debilitating motor and cognitive problems, hyperuricemia, and the urge to harm themselves with acts of self-injurious behavior
The hypoxanthine– guanine phosphoribosyl transferase (HPRT) deficiency found in the individuals is closely related with high urinary concentrations of uric acid and increased serum uric acid levels

Summary

INTRODUCTION

In the world of developmental and physical disorders, none is stranger than Lesch–Nyhan syndrome (LNS). Patients are found to have high urinary concentrations of uric acid and increased serum uric acid levels due to the HPRT deficiency They appear normal when they are born, but by about the third month they are unable to lift their heads or sit up. A one-and-a-half-year-old male child born to a consanguineously married couple was brought to the Department of Pedodontics, Sinhgad Dental College, for dermatological assessment of failure to thrive and lacerations over lower lip, thumbs, and index finger due to self-biting (Fig. 1). After recording the history from the parents, it was revealed that the child had developed the habit of self-biting at 10 months of age roughly coinciding with eruption of teeth He was the only child born to the parents after a normal gestation/pregnancy. Due to lack of patient’s cooperation and as patient was from remote village, proper follow-up could not be maintained

DISCUSSION

CONCLUSION