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.
Kersnik Levart
Tanja
T
Department of Pediatric Nephrology, University Medical Center, Stare pravde 4, 1000 Ljubljana, Slovenia. Tanja.Kersnik@guest.arnes.si
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