Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis.
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.
Department of Pediatric Nephrology, University Medical Center, Stare pravde 4, 1000 Ljubljana, Slovenia. Tanja.Kersnik@guest.arnes.si
Tanja
T
Kersnik Levart
D002547:Cerebral Palsy / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000175:diagnosis*; D008297:Male; D009397:Nephrocalcinosis / Q000000981:diagnostic imaging* / Q000209:etiology*; D053040:Nephrolithiasis; D012652:Self Mutilation; D014463:Ultrasonography; D014527:Uric Acid / Q000378:metabolism
D014527:Uric Acid