Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism, due to deficiency of the enzyme HPRT (hypoxanthine-guanine phosphoribosyl transferase) and underlying HRPT gene mutations (over 300 mutations identified up to date). It is characterized by a wide range of neurological symptoms and signs (mainly a combination of spastic diplegia with choreoathetosis and an overall psychomotor redardation). Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency.
Urology. 2016 Apr 11 [Epub ahead of print]
E Vargiami, N Printza, E Papadimiditriou, S Batzios, M Kyriazi, F Papachristou, D I Zafeiriou
1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. Electronic address: .