JRD Journal of Rheumatic Diseases J Rheum Dis 2093-940X 2233-4718 The Korean College of Rheumatology 10.4078/jrd.2014.21.4.192 jrd-21-192 Case Report A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom YeoYooMi 1 ChoiEun Young 1 YoonHyae Jin 1 JungSodam 1 KimDam 1 2 LeeSeunghun 3 JooKyung Bin 3 JunJae-Bum 1 2 Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Hanyang University College of Medicine, Seoul, Korea Department of Radiology, Hanyang University College of Medicine, Seoul, Korea Corresponding to: Jae-Bum Jun, Departments of Internal Medicine, Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Hanyang University College of Medicine, 222-1, Wangsimni-ro, Seongdong-gu, Seoul 133-792, Korea. E-mail: junjb@hanyang.ac.kr 10 2014 31 10 2014 21 4 192 195 09062013 27072013 29072013 Copyright © 2014 The Korean College of Rheumatology 2014 This is a Free Access article, which permits unrestricted non-commerical use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract

Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypo-xanthine-guanine phosphoribosyltransferase–deficient patients are presented with a various intensities of the afore-mentioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypo-xanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.

 Lesch-Nyhan HPRT Secondary gout REFERENCES Torres RJ Puig JG Hypoxanthine-guanine phosophor-ibosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome Orphanet J Rare Dis 2007 2 48 Cameron JS Simmonds HA Hereditary hyperuricemia and renal disease Semin Nephrol 2005 25 918 Emmerson BT The management of gout N Engl J Med 1996 334 44551 Lesch M Nyhan WL A Familial Disorder Of Uric Acid Metabolism And Central Nervous System Function Am J Med 1964 36 56170 Seegmiller JE Rosenbloom FM Kelley WN Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis Science 1967 155 16824 Christie R Bay C Kaufman IA Bakay B Borden M Nyhan WL Lesch-Nyhan disease: clinical experience with nineteen patients Dev Med Child Neurol 1982 24 293306 Puig JG Torres RJ Mateos FA Ramos TH Arcas JM Buño AS The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families Medicine (Baltimore) 2001 80 10212 Kersnik Levart T Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis Pediatr Nephrol 2007 22 19758 Kwon BW Hyun KH Han JH Kim SM Lee SS Choo YK A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation Korean J Nephrol 2009 28 5862 Yamada Y Wakamatsu N Taniguchi A Kaneko K Fujimori S Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population Nucleosides Nucleotides Nucleic Acids 2011 30 124855 Sculley DG Dawson PA Beacham IR Emmerson BT Gordon RB Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification Hum Genet 1991 87 68892 Figures

There are multiple tophi in hands, feet and ear lobes.

Ultrasonography of our patient's kidney with medullary nephrocalcinosis.

Multiple joint deformi-ties of both hands and feet are seen in simple X-rays.

HPRT deficiency due to c.46G>A (p.G16S) of HPRT1 gene.