Rare variant of Lesch–Nyhan syndrome without self-mutilation or nephrolithiasis
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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.
KeywordsLesch–Nyhan syndrome Hypoxanthine-guanine-phosphoribosyl transferase (HPRT) deficiency Dystonia No self-mutilation Hyperechoic renal medullary pyramids
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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