This Article Full Text (PDF) Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Ludman, C. N. Articles by Saunders, A. J. Search for Related Content PubMed PubMed Citation Articles by Ludman, C. N. Articles by Saunders, A. J.

Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome

Department of Radiology, Guy's Hospital, St Thomas Street, London SW1 9RT, UK ^* Department of Radiology, The Hospital for Sick Children, Great Ormond Street, London WC1 3JH, UK

This excerpt was created in the absence of an abstract.

Lesch-Nyhan syndrome, first described in 1964, is an X-linked recessive disorder of purine metabolism. A cellular deficiency or absence of the purine salvage enzyme hypoguanine phosphoribosyl transferase causes purine overproduction and subsequent hyperuricaemia and gout. Clinically the syndrome manifests as neurological disorders, behavioural disturbances characterized by self mutilation and variable mental retardation. In addition, hyperuricaemia results in the clinical features of gout, with gouty arthritis, tophi, urate and uric acid nephropathies.

Key Words: Lesch-Nyhan syndrome • Ultrasound • Hyperechoic cortex • Crystal nephropathy

Received for publication November 8, 1991. Accepted for publication January 16, 1992.