Eine Rhabdomyolyse auf der Intensivstation kann multifaktorieller Genese sein. Die Anamnese-Erhebung spielt hier eine bedeutende Rolle. Die Myotonia congenita Thomsen zählt zu den
hereditären nicht dystrophen Myotonien und kann im intensivmedizinischen Setting eine Rhabdomyolyse verursachen. Sie muss bei den Überlegungen zur Krankheitsursache stets im Fokus sein und
darf aufgrund anderer vorhandener Diagnosen nicht in den Hintergrund rücken.
Abstract
Myotonia 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.
Schlüsselwörter
Myotonie - Ionenkanalerkrankung - Rhabdomyolyse - Nierenversagen - Aortendissektion
Keywords
myotonia - ion channel disease - rhabdomyolysis - kidney failure - aortic dissection
