A patient with Lesch-Nyhan Syndrome presenting with anesthetic challenges: Not an exception, but the rule

Abstract

Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder characterized by errors in purine metabolism that result in uric acid overproduction. The disease is caused by deficient levels of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which is encoded by the HPRT1 gene. We present a clinically diagnosed case of LNS presenting with typical symptoms of delayed global development, neurological dysfunction and self-mutilating behavior. Sequence analysis of the HPRT1 gene revealed the presence of a pathogenic R170* variant in the proband. While this variant was absent in the father, it was present in the mother suggesting carrier status, as is expected for an X-linked condition. The proband, like other LNS patients, had a history of unresponsiveness to commonly used anesthetics during outpatient surgical procedures. We provide genetic evidence against the potential use of succinylcholine in the proband and in his father due to the presence of genetic variants in the butyrylcholinesterase (BCHE) gene. Furthermore, the mechanism underlying the lack of response to Benzodiazepine in the proband and the anesthetic apnea in response to propofol in other LNS patients is discussed. This study highlights the abnormal responses to anesthetics in LNS patients and provides impetus for the development of guidelines for the safe use of anesthetics in these patients.