| A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation |
| Byung Woon Kwon, M.D., Kyung Hee Hyun, M.D., Jin Hyung Han, M.D., So Mi Kim, M.D., Sang Seok Lee, M.D., Young Kwang Choo, M.D. and Eun Kyoung Lee, M.D. |
| Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea |
| 증례 : 뚜렷한 신경학적 증상 없이 통풍성 관절염만으로 발현된 hypoxanthine-guanine phosphoribosyltransferase (HPRT) 완전 결핍증 (Lesch-Nyhan 병) 1례 |
| 권병운, 현경희, 한진형, 김소미, 이상석, 추영광, 이은경 |
| 단국대학교 의과대학 내과학교실 |
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| Abstract |
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Lesch-Nyhan disease is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreoathetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. The underlying defect is a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). We report on a fourteen-year-old boy, who manifested gouty arthritis and mild renal insufficiency with Lesch-Nyhan disease, lacking self-mutilative behavior in spite of undetectable HPRT activity. Though there were several reports about some cases of Lesch-Nyhan disease in the past Korean literature, the cases were classic forms with definite neurological manifestation. As far as we know, this is the first case of Lesch-Nyhan disease without self-mutilation in Korea. |
| Key Words:
Lesch-Nyhan, Hypoxanthine-guanine phosphoribosyltransferase (HPRT), Gout, Self-mutilation |
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