Three Cases of Lesch-Nyhan Syndrome: Cases report.

, Shin, Yong Beom; , Han, Ji Eui; , Kim, Kyung Min; , Yang, Song Hyun; , Im, Dae Seong

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2005;29(6):673-677.

Shin, Yong Beom , Han, Ji Eui , Kim, Kyung Min , Yang, Song Hyun , Im, Dae Seong

¹Department of Rehabilitation Medicine, Pusan National University College of Medicine, Korea. vega@medimail.co.kr
²Green Cross Reference Laboratory, Korea.

Lesch-Nyhan 증후군 3례 -증례 보고-

신용범, 한지의, 김경민, 양송현¹, 임대성¹

부산대학교 의과대학 재활의학교실, ¹녹십자의료재단 대사의학연구소

Abstract

Lesch-Nyhan syndrome is a rare X-linked recessive metabolic disorder characterized by developmental delay, hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This syndrome is often misdiagnosed to cerebral palsy and clinical manifestations are usually related to the degree of enzyme deficiency. Complete HGPRT deficiency presents with severe specific neurologic manifestation and nephrolithiasis leading to fatal kidney damage. This report highlighted the importance of clinical awareness leading to early diagnosis and therapy for prevention of the self mutilation and renal failure, even if we couldn't inhibit the progression of neuro-psychotic symptoms. (J Korean Acad Rehab Med 2005; 29: 673-677)

Key Words: Lesch-Nyhan syndrome, Hypoxanthine-guanine phosphoribosyltransferase, Self mutilation