Ecstacy-induced delayed rhabdomyolysis and neuroleptic malignant syndrome in a patient with a novel variant in the ryanodine receptor type 1 gene

作者: T. Russell , S. Riazi , N. Kraeva , A. C. Steel , L. A. Hawryluck

DOI: 10.1111/J.1365-2044.2012.07226.X

关键词: Neuroleptic malignant syndromePathologyCoagulopathyAnesthesiaMedicineCreatine kinaseDantroleneMalignant hyperthermiaDisseminated intravascular coagulationRyanodine receptorRhabdomyolysis

摘要: We present the case of a 20-year-old woman who developed rhabdomyolysis, disseminated intravascular coagulopathy and multi-organ failure induced by ecstasy. Following initial improvement, she delayed rhabdomyolysis then haloperidol-induced neuroleptic malignant syndrome, which was treated with total 50 mg.kg(-1) dantrolene. Subsequent genetic testing revealed novel potentially pathogenic variant in ryanodine receptor type 1 gene. However, caffeine-halothane contracture patient's mother carried same gene negative for hyperthermia.

参考文章(25)
Brian E. Grunau, Matthew O. Wiens, Jeffrey R. Brubacher, Dantrolene in the treatment of MDMA-related hyperpyrexia: a systematic review. Canadian Journal of Emergency Medicine. ,vol. 12, pp. 435- 442 ,(2010) , 10.1017/S1481803500012598
Natasha Kraeva, Sheila Riazi, Julian Loke, Wanda Frodis, Mary Lou Crossan, Kevin Nolan, Alexander Kraev, David H. MacLennan, Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population Canadian Journal of Anaesthesia-journal Canadien D Anesthesie. ,vol. 58, pp. 504- 513 ,(2011) , 10.1007/S12630-011-9494-6
M. Farre, M. Mas, J. Ortuno, J. Cami, P. N. Roset, J. Segura, R. De La Torre, Cardiovascular and Neuroendocrine Effects and Pharmacokinetics of 3,4-Methylenedioxymethamphetamine in Humans Journal of Pharmacology and Experimental Therapeutics. ,vol. 290, pp. 136- 145 ,(1999)
N.T.A. Campkin, U.M. Davies, Treatment of ‘ecstasy’ overdose with dantrolene Anaesthesia. ,vol. 48, pp. 82- 83 ,(2007) , 10.1111/J.1365-2044.1993.TB06811.X
Victoria Andreu, Antoni Mas, Miquel Bruguera, Joan Manuel Salmerón, Vicente Moreno, Santiago Nogué, Joan Rodés, Ecstasy: A common cause of severe acute hepatotoxicity Journal of Hepatology. ,vol. 29, pp. 394- 397 ,(1998) , 10.1016/S0168-8278(98)80056-1
Rafael de la Torre, Jordi Ortuño, Marta Mas, Magi Farré, Jordi Segura, Fatal MDMA intoxication The Lancet. ,vol. 353, pp. 593- 594 ,(1999) , 10.1016/S0140-6736(05)75653-1
Natasha Kraev, Julian C. P. Loke, Alexander Kraev, David H. MacLennan, Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes Anesthesiology. ,vol. 99, pp. 289- 296 ,(2003) , 10.1097/00000542-200308000-00010
Rafael de la Torre, Magí Farré, Pere N. Roset, Neus Pizarro, Sergio Abanades, Mireia Segura, Jordi Segura, Jordi Camí, Human pharmacology of MDMA: pharmacokinetics, metabolism, and disposition. Therapeutic Drug Monitoring. ,vol. 26, pp. 137- 144 ,(2004) , 10.1097/00007691-200404000-00009
A.J. Larner, Dantrolene and ‘ecstasy’ overdose Anaesthesia. ,vol. 48, pp. 179- 180 ,(2007) , 10.1111/J.1365-2044.1993.TB06889.X
Fabrizio Schifano, A bitter pill. Overview of ecstasy (MDMA, MDA) related fatalities. Psychopharmacology. ,vol. 173, pp. 242- 248 ,(2004) , 10.1007/S00213-003-1730-5