Müferet ERGÜVEN, SARE GÜLFEM ÖZLÜ, Banu BAL, Büge ÖZ, Cüneyt ŞAR

Rabdomiyoliz ile gelen bir santral kor hastalığı vakası

Santral kor hastalığı otozomal olarak kalıtılan; jeneralize hipotomi, kas güçsüzlüğü ve kas biyopsisinde santral kor varlığı ile karakterize konjenital bir miyopatidir. Kromozom 19q13'de bulunan ryanodin reseptör 1 (RYR-1) genindeki mutasyonlar sonucu santral kor hastalığı ve malign hipertermi ortaya çıkabilir. Burada malign hiperterminin yol açtığı rabdomiyoliz tablosunda başvuran bir santral kor hastalığı vakası sunulmuştur.

Anahtar Kelimeler:

Rabdomiyoliz, Malign hipertermi, Miyopati, merkezi kor

Central core disease presenting with rhabdomyolysis

Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and central cores on muscle biopsy and is inherited by autosomal dominant trait. Mutations in the ryanodine receptor 1 gene (RYR-1) on chromosome 19q13 are responsible for central core disease and malignant hyperthermia. We report a case of central core disease who was referred with rhabdomyolsis caused by malignant hyperthermia.

Keywords:

Rhabdomyolysis, Malignant Hyperthermia, Myopathy, Central Core,

___

1.Larbi E. Drug induced rabdomyolysis. From the department of Internal Medicine and Pharmacology; King Faisal University; College of Medicine, Dammam, Saudi Arabia.
2.Gerald M. Fenichel. Central core myopathy in Clinical Pediatric Neurology, 4th ed; Philadelphia 2001: 163.
3.Watemberg N, Lesshner RL, Armstrong BA, Lerman-Sagie T. Acute pediatric rhabdomyolysis. J Child Neurol 2000; 15: 222-7.
4.Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia; National Genetics 1993; 5: 51-5.
5.Wedel DJ. Malignant hyperthermia and neuromuscular diseases; Annual French Anesth Reanim 2001; 20: 838-52.
6.Romero NB, Nivoche Y, Lunardi J, Bruneau B, Cheval MA, Hillair Fardeau M. Malignant hyperthermia and central core disease: Analysis of two families with heterogenous clinical expression. Neuromuscular Disorders 1993; 3: 547-51.
7.Vorrakitpokatorn P, Limsakul A. Drug induced rhabdomyolysis during the perioperatif period: report of three patients Journal of Medical Assoc Thai 2002; 85 Spuul 3: S884-92.
8.Muntoni F, Sewry CA. Central core cisease: new findings in an old disease; Brain 2003; 126: 2339-40.
9.Quinlivan RM, Muller CR, Davis M, et al. Central core disease: clinical, pathological and genetic features. Arch Dis Child 2003; 88: 1051-5.