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© 1994 British Society for Rheumatology

case-report

LESCH-NYHAN SYNDROME PRESENTING WITH RENAL INSUFFICIENCY IN INFANCY AND TRANSIENT NEONATAL HYPOTHYROIDISM

E. A. JENKINS*,, R. J. HALLETT{dagger} and R. G. HULL*

*Department of Rheumatology, Portsmouth Hospitals
{dagger}Department of Paediatrics, Portsmouth Hospitals

Correspondence to: Correspondence to: E. A. Jenkins, Department of Rheumatology, Queen Alexandra Hospital, Cosham, Portsmouth PO6 3LY.

A 20-day-old male infant presented with acute renal failure. Three weeks later he developed acutely swollen, hot, red joints and tophi in his hands and feet. The serum uric acid was 2.2 mmol/1 (normal 0.13–0.23 mmol/1) and the urinary oxypurine/creatinine ratio was 2.26 mmol (normal <1.5 mmol). Complete deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) in intact erythrocytes confirmed Lesch-Nyhan syndrome. Neurological development was delayed and self-mutilation was observed at 22 months. Acute renal failure secondary to crystal nephropathy and tophaceous gout are unusual presenting features of this rare condition. This child also had transient neonatal hypothyroidism, which is not a recognized manifestation of the syndrome.

KEY WORDS: Lesch-Nyhan syndrome, Acute crystal nephropathy, Tophaceous gout, Transient neonatal hypothyroidism


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