Lesch-Nyhan syndrome. Case report and review of literature.

Abstract: Lesch–Nyhan syndrome (LNS) is a rare X - linked recessive disorder, that occurs almost exclusively in males. The disorder is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl-transferase (HGPRT). It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. LNS affects about 1 in 380,000 live births. The HGPRT deficiency causes a build-up of uric acid in all body fluids. Hypoxanthine degraded into xanthine and uric acid in the liver by the enzyme xanthine oxidase. The combination of increased synthesis and decreased utilization of purines leads to high levels of uric acid production. Three major signs characterize LNS: uric acid overproduction (hyperuricemia), neurologic dysfunction, and cognitive and behavioral disturbances including self-mutilation. We present a case of a 27-day-old full term male infant, that was admitted to our department due to failure to thrive, he was not eating and growing as he should, laboratory results revealed high levels of uric acid, hypocalcaemia, renal failure with metabolic acidosis. On admission his weight 3300 gram, low height for his age, Irritability, poor sucking, and muscle atrophy. After full investigation, diagnosis of LNS was established through biochemical analysis and molecular examinations. Conclusion: LNS is a rare disorder but it can easily be diagnosed. Patients may die from aspiration pneumonia or complications from chronic nephrolithiasis and renal failure. Diagnosis is suspected when psychomotor delay occurs in a patient with elevated UA in blood and urine. Undetectable HPRT enzyme activity in peripheral blood or in intact cells (erythrocyte, fibroblast) and molecular genetic testing confirm the diagnosis.