Renal sonography in long standing Lesch-Nyhan syndrome.

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The Lesch-Nyhan syndrome is an x-linked defect of purine metabolism resulting in its classical form in major neurodevelopmental abnormality , hyperuricaemia , and hyperuricosuria . Uric acid calculi and crystalluria are common . Allopurinol is the main method of reducing serum and urinary uric acid levels , but results in xanthinuria and oxypurinoluria , both of which may cause crystal nephropathy and calculi . The variable ultrasonic appearances of multiple calculi and increased medullary echogenicity in four cases of long -standing treated disease and the nature of the renal disorder , which is at least partially iatrogenic , are described .