Abstract
BackgroundLesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndrome exhibit severe neurological impairments, including choreoathetosis, ballismus, cognitive dysfunction, and self-injurious behavior. Uric acid levels are usually abnormally high, leading to kidney and bladder stones which often necessitate urological intervention. Factor V Leiden is an autosomal dominant disorder of blood clotting associated with hypercoagulability, thrombophilia, and renal disease.Case presentationWe present the first reported case of xanthine calculi in a patient with Lesch-Nyhan syndrome and Factor V Leiden who was treated with allopurinol. A renal ultrasound and CT scan demonstrated bilateral staghorn calculi in the kidneys as well as nephrocalcinosis. Two years earlier the patient underwent cystoscopy with bilateral ureteroscopy and laser lithotripsy, and he was stone free afterwards. The patient subsequently underwent bilateral percutaneous nephrolithotomy (PCNL) and was stone free following the procedure. Patients with endogenous overproduction of uric acid who are being treated with allopurinol have a higher chance of developing xanthine stones.ConclusionsPediatricians treating these children should be aware of these rare conditions and promptly manage the potential complications that may require medical or surgical intervention.
Highlights
Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)
We report the first case of xanthine calculi in a patient with Lesch-Nyhan syndrome and Factor V Leiden who was treated with allopurinol and underwent several urological procedures to remove calculi
Pediatricians should be aware of the rare phenomena of Lesch-Nyhan syndrome and Factor V Leiden and the potential renal disorders inherent in both conditions
Summary
Described in 1964, Lesch-Nyhan syndrome is characterized by a triad of hyperuricemia, central nervous system dysfunction, and familial inheritance and has an incidence of 1:100,000 to 1:300,000 [1, 2]. At the age of 18 months, the boy underwent a test for organic acids in his urine which revealed highly elevated hypoxanthine without an elevation of xanthine and with a slight elevation of uracil He was diagnosed clinically with Lesch-Nyhan syndrome at that time based on a triad of uric acid overproduction, neurologic dysfunction, and cognitive and behavioral disturbances. The patient was noted to be anemic and received 5 days of epogen and iron supplementation He developed a thrombus in the right cephalic vein and was diagnosed with heterozygous Factor V Leiden with elevated homocysteine (16.2 umol/L [Normal range: 6.6–14.8 umol/L]). The calculi that were removed during the ureteroscopies, the ones that the patient had passed while seen as an outpatient, and those that were sent for analysis following the PCNL were all consistent with xanthine calculi
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