• Christine Gaik and Christian Arndt.
• Anasthesiol Intensivmed Notfallmed Schmerzther. 2022 Jul 1; 57 (7-08): 502-507.

AbstractMyotonia congenita Thomsen is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Although this channelopathy may cause disabling muscle symptoms, patient's daily routine can be almost inconspicuous. Nevertheless, during illness or acute diseases this neuromuscular disease may worsen and get clinically apparent up to severe rhabdomyolysis. Within this case report we describe and discuss the treatment of a patient with Myotonia congenita Thomsen treated at our hospital's intensive care unit. Rhabdomyolysis with acute renal failure and necessity of dialysis during the ICU stay was attributed to the initial reason for emergency hospitalization - an aortic dissection. Nevertheless, in this case the patient's myotonia caused rhabdomyolysis and initially led us on a wrong path. Diagnosis of the real cause of rhabdomyolysis is often difficult, although an early and adequate therapy may prevent complications. This case report demonstrates the importance of a thorough anamnesis with all aspects of the patient's history.Thieme. All rights reserved.

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