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  • Title: Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline.
    Author: Djurhuus MS, Klitgaard NA, Jensen BM, Andersen PE, Schrøder HD.
    Journal: Acta Paediatr; 1998 Apr; 87(4):475-7. PubMed ID: 9628312.
    Abstract:
    In this paper a follow-up is presented of a case report initially described by Andersen in 1971. The patient presented with a syndrome including elements of familial periodic paralysis with hypokalaemia, long QT syndrome, ventricular ectopy, myopathy with fibre-type disproportion and dysmorphic features resembling Treacher Collins' syndrome. The main symptom was hypokalaemic paralysis. The episodes were accompanied by a lowered intracellular potassium content and an increase in intracellular sodium. Treatment with terbutaline, a Na/K-ATPase-stimulating drug, resulted in attack-free periods of approximately 9 months, after which the attacks reoccurred. The patient suffered severe attacks whenever treatment with terbutaline was stopped. The patient experienced two attacks of respiratory arrest, the second being fatal.
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