MULTIPLE ANOMALIES, HYPOKALEMIC PARALYSIS AND PARTIAL SYMPTOMATIC RELIEF BY TERBUTALINE

In this paper a follow-up is presented of a case report initially desc ribed by Andersen in 1971. The patient presented with a syndrome inclu ding elements of familial periodic paralysis with hypokalaemia, long Q T syndrome, ventricular ectopy, myopathy with fibre-type disproportion and dysmorphic features resembling Treacher Collins' syndrome. The ma in symptom was hypokalaemic paralysis. The episodes were accompanied b y a lowered intracellular potassium content and an increase in intrace llular sodium. Treatment with terbutaline, a Na/K-ATPase-stimulating d rug, resulted in attack-free periods of approximately 9 months, after which the attacks reoccurred. The patient suffered severe attacks when ever treatment with terbutaline was stopped. The patient experienced t wo attacks of respiratory arrest, the second being fatal.