Central core disease presenting with rhabdomyolysis

Objective & Hypothesis: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.

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Key Findings & Data:Mutations in the ryanodine receptor 1 gene (RYR-1) on chromosome 19q13 are responsible for central core disease and malignant hyperthermia.

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Conclusion & Impact:We report a case of central core disease who was referred with rhabdomyolsis caused by malignant hyperthermia.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Rabdomiyoliz · Malign hipertermi · Miyopati

Abstract

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.

Özet

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.

Keywords

Rabdomiyoliz Malign hipertermi Miyopati merkezi kor Rhabdomyolysis Malignant Hyperthermia Myopathy Central Core

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Cite This Article

ERGÜVEN, M., ÖZLÜ, S. G., BAL, B., ÖZ, B., ŞAR, C. (2005). Central core disease presenting with rhabdomyolysis. Çocuk Dergisi, Cilt: 5 - Sayı: 3, 216–218. https://ajindex.com/articles/172766

References (1)

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