|
KMID : 0358920050320020306
|
|
Journal of the Korean Academy of Pedodontics
2005 Volume.32 No. 2 p.306 ~ p.311
|
|
|
PREVENTION OF SELF-MUTILATION IN PATIENT WITH LESCH-NYHAN SYNDOME A CASE REPORT
|
|
Lee Ji-Hyun
Kim Ji-Hoon
Kim Jae-Moon
Jeong Tae-Sung
Kim Shin
|
|
|
Abstract
|
|
|
Lesch-Nyhan syndrome is a rare disorder of purine metabolism, first described in 1964. The incidence is estimated to be 1:100,000 birth. It is an X-linked recessive disorder in which affected males have a virtually complete deficiency of the enzyme hypoxanthine guanine phosphorybosyl transferase(HGPT) . This enzyme deficiency gives rise to excessive uric acid production and consequent hyperuricemia.
Lesch-Nyhan syndrome is clinically characterized by mental retardation, choreoathetosis, spastic cerebral palsy, and severe self-mutilation behavior. Patient with Lesch-Nyhan syndrome mostly bite their lip, tongue and finger. In severe cases, partial or total amputation of the lip and tongue is common. Self-inflicted bites are often further complicated by secondary infection to injuried site as well as pain. And tissue loss by biting results in esthetic problems.
This report presents a Lesch-Nyhan syndrome patient with self-mutilation, who have a destruction of perioral tissue, especially the lower lip. He was treated successfully with soft mouth guard, psychological and pharmacological method.
|
|
|
KEYWORD
|
|
|
Lesch-Nyhan syndrome, Mouthguard, Self-mutilation
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
|