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Pediatric Nephrology

, Volume 22, Issue 11, pp 1975–1978 | Cite as

Rare variant of Lesch–Nyhan syndrome without self-mutilation or nephrolithiasis

  • Tanja Kersnik LevartEmail author
Brief Report

Abstract

Lesch–Nyhan syndrome is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. Hyperuricemia leads to hyperuricuria and uric acid nephrolithiasis. The underlying defect is a deficiency of hypoxanthine-guanine-phosphoribosyl transferase. We report on a 7-year-old boy with Lesch–Nyhan syndrome, lacking self-mutilative behavior, who was erroneously diagnosed as having athetotic cerebral palsy. He also had no renal stones; hyperechoic renal medullary pyramids were the only renal abnormality detected and were sonographically indistinguishable from medullary nephrocalcinosis.

Keywords

Lesch–Nyhan syndrome Hypoxanthine-guanine-phosphoribosyl transferase (HPRT) deficiency Dystonia No self-mutilation Hyperechoic renal medullary pyramids 

Notes

Acknowledgments

We would like to thank Prof. Dr. Sabina Gallati, PhD, from the Division of Human Genetics, Department of Paediatrics, Inselspital, Bern, Switzerland, for performing the mutational screening of the patient’s HPRT1 gene.

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Copyright information

© IPNA 2007

Authors and Affiliations

  1. 1.Department of Pediatric NephrologyUniversity Medical CenterLjubljanaSlovenia

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