Renal oxypurine deposition in lesch-Nyhan syndrome : sonographic evaluation

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 ment...

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Bibliographic Details
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
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Summary: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.
ISSN:0301-0449
1432-1998
DOI:10.1007/BF02387665