ÖZET
Myotoni konjenita (MC), Thomsen tarafından, 1876 yılında, iskelet kaslarında ortaya çıkan bir hastalık olarak tanımlanmıştır. On yedinci kromozomda yer alan klor kanalı geninin (CLCN1) bir mutasyonu sonucunda, hastalarda kas kontraksiyonları ve yorgunluk ortaya çıkar. Bu hastalarda anestezi altında malin hipertermi gelişebilir. Aşağıda bir MC hastasıyla ilgili olarak yaşadığımız anestezi deneyimini paylaşmak istiyoruz.
References
1
Russel SH, Hirsch NP. Anaesthesia and myotonia. Br J Anaesth 1994;72:210-216.
2
Jurkat-Rott K, Lehmann-Horn F. Human muscle voltagegated ion channels and hereditary disease. Curr Opin Pharmacol 2001;1:280-287.
3
Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, van Ghelue M. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet 2001;9:903-909.
4
Parness J, Bandschapp O, Girard T. The Myotonias and Susceptibility to Malignant Hyperthermia. Anesth Analg 2009;109:1054-1064.
5
Savitha MR, Krishnamurthy B, Hyderi A, Farhan-Ul-Haque, Ramachandra NB. Myotonia congenita--a successful response to carbamazepine. Ind J Pediatr 2006;73:431-433.
6
Heatwole CR, Moxley RT. The nondystrophic myotonias. Neurotherapeutics 2007;4:238-251.
7
England DE: Mutant sodium channels, myotonia and propofol, Muscle Nerve 2001;24:713-715.
8
Looi I, Bakar A , Lim CH, Khoo TH, Samuel PE. Anaesthetists’ nightmare: masseter spasm after ınduction in an undiagnosed case of myotonia congenita. Med J Malaysia 2008;63:423-425.
9
Vaughan MS, Vaughan RW, Cork RC. Hypothermia in adults: relationship of age, anesthesia and shivering to rewarming. Anesth Analg 1981;60:746-751.
10
Heimann-Patterson T, Martino C, Rosenberg H, Fletcher JE, Tahmoush AJ. Malignant hyperthermia in myotonia congenita. Neurology 1988;38:810-812.
11
Marsh S, Ross N, Pittard A. Neuromuscular disorders and anaesthesia. Part 1: Generic Anaesthetic Management Continuing Education in Anaesthesia, Critical Care and Pain 2011;11:115-118.
12
Conravey A, Santana-Gould L. Myotonia congenita and myotonic dystrophy: surveillance and management. Curr Treat Options Neurol 2010;12:1628.
13
Cohen IT, Kaplan R. Repeat episodes of severe muscle rigidity in a child receiving sevoflurane. Paediatr Anaesth 2006;16:1077-1079.
14
Driesson J. Neuromuscular and mitochondrial disorders: what is relevant to the anaesthesiologist?. Curr Opin Anaesthesiol 2008;21:350-355.
15
Russel SH, Hirsch NP. Anaesthesia and myotonia. Br J Anaesth 1994;72:210-216.
16
Catena V, Del Monte DD, Rubini A, Guccione C, Ricagna F, Gangeri G, et al. Anesthesia and myotonic dystrophy (Steinert’s syndrome). The role of intravenous anesthesia with propofol, cis-atracurium, and remifentanil. A case report. Minerva Anestesiol 2007;73:475-479.
17
Gutmann L, Phillips LH. Paramyotonia congenita. Seminarsm Neurology 1991;11:249-25.
