Anesthetic Management of Lesch-Nyhan Syndrome

Lesch-Nyhan disease is a rare X-linked recessive genetic disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase enzyme. The patients with Lesch-Nyhan Syndrome have several problems such as positioning and difficult intravenous cannulation because of spasticitiy. Also these patients have risk for bradycardia, pulmonary aspiration, convulsion and sudden death. Anesthetic implications of the patients with Lesch- Nyhan Syndrome are not well described. Here we report our anesthesia experience in a 4 years-old child with Lesch-Nyhan syndrome, who underwent cataract surgery. Patients with Lesch-Nyhan syndrome should be carefully evaluated in the preoperative period especially to determine the difficulties in venous access and positioning. These patients should be closely monitored for the potential of pulmonary aspiration, and sudden death postoperatively.

Lesch-Nyhan Sendromunda Anestezik Yaklasım

Lesch-Nyhan sendromu ender rastlanan, x-resesif, hipoksantin fosforiboziltransferaz enzim eksikliği ile karakterize, pürin metabolizması bozukluğudur. Lesch- Nyhan sendromlu hastalarda pozisyon vermede, spastisite nedeniyle intravenoz kanulasyonda zorluklar mevcuttur. Ayrica bu hastalar bradikardi, pulmoner aspirasyon, konvulziyon ve ani olum riskleri de mevcuttur. Lesch-Nyhan sendromunda anestezi yaklasimi iyi tarif edilmemistir. Bu sunuda; katarakt nedeniyle operasyon geçiren Lesch-Nyhan sendromlu 4 yasindaki hastaya anestezi yaklasımı sunulmustur. Lesch-Nyhan sendromlu hastalar ozellikle zor venoz kanulasyon ve pozisyon nedeniyle preoperatif donemde dikkatlice degerlendirilmelidir. Bu hastalarin, postoperatif donemde pulmoner aspirasyon ve ani olum riskleri nedeniyle yakin takipleri gerekir.