Eran Rosenberg, M.D. and Dennis S. Peppas, M.D. with Norton Children’s Urology recently published a case study on Lesch-Nyhan syndrome, a rare inborn error of pure 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. With this condition, uric acid levels are high, leading to kidney and bladder stones which often necessitate urological intervention.

The case study, published in BioMed Central Pediatrics, details a patient with Lesch-Neyhan syndrome and Factor V Leiden, an autosomal dominant disorder of blood clotting associated with hypercoagulability, thrombophilia, and renal disease. The patient was treated with allopurinol and underwent several urological procedures to remove calculi. The research includes the pathophysiology of xanthine stones, the use of allopurinol in patients with HPRT deficiency experiencing uric acid overproduction, the consequences of allopurinol overdosing, the challenges associated with the combined diagnoses of Lesch-Nyhan syndrome and Factor V Leiden, and the myriad of medical and surgical managements for urolithiasis associated with Lesch-Nyhan syndrome.

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.

To view the entire case study, click here..

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