Renal oxypurine deposition in lesch-Nyhan syndrome : sonographic evaluation

• Published in: Pediatric radiology 1989-07, Vol.19 (6-7), p.479-480
• Main Authors: STEVENS, S. K, PARKER, B. R
• Format: Article
• Language: English
• Subjects: Allopurinol - adverse effects; Biological and medical sciences; Child; Humans; Hypoxanthine; Hypoxanthines - analysis; Kidney Calculi - analysis; Kidney Calculi - diagnosis; Kidney Calculi - etiology; Lesch-Nyhan Syndrome - drug therapy; Male; Medical sciences; Metabolic diseases; Other metabolic disorders; Purines and pyrimidines (gout, hyperuricemia...); Ultrasonography; Uric Acid - analysis; Xanthine; Xanthines - analysis
• ISSN: 0301-0449; 1432-1998
• DOI: 10.1007/BF02387665

Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism associated with a virtually complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyl-transferase (HPRT). The disease is characterized by hyperuricemia, self-multilation, choreoathetosis, spasticity, and mental retardation. The abnormalities of purine metabolism are present at birth and may lead to uric acid crystalluria and stone formation early in life. Radiographic findings described in Lesch-Nyhan syndrome include faintly radio-opaque stones on abdominal radiographs or, if renal disease is present, small kidneys with poor function on intravenous urogram. Radiolucent stones are usually composed of uric acid; however, several cases of xanthine and hypoxanthine-containing calculi in Lesch-Nyhan patients receiving allopurinl therapy have also been described. Oxypurine is the collective name for the compounds hypoxanthine, xanthine, and uric acid, and all may be radiolucent. We report a case of Lesch-Nyhan syndrome with presumed renal parenchymal oxypurine deposition demonstrated readily by ultrasonography but not detected on standard radiographs or intravenous urograms.