title: Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline.
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.
authors.affiliation: Department of Clinical Biochemistry and Genetics, Odense University Hospital, Denmark.
authors.forename: M S
authors.initials: MS
authors.lastname: Djurhuus
authors.forename: N A
authors.initials: NA
authors.lastname: Klitgaard
authors.forename: B M
authors.initials: BM
authors.lastname: Jensen
authors.forename: P E
authors.initials: PE
authors.lastname: Andersen
authors.forename: H D
authors.initials: HD
authors.lastname: Schrøder
mesh_terms: D000015:Abnormalities, Multiple; D001145:Arrhythmias, Cardiac / Q000188:drug therapy; D002648:Child; D017809:Fatal Outcome; D006801:Humans; D007008:Hypokalemia / Q000150:complications*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications; D010245:Paralyses, Familial Periodic / Q000150:complications / Q000188:drug therapy*; D013566:Sympathomimetics / Q000627:therapeutic use*; D013726:Terbutaline / Q000627:therapeutic use*
chemical_list: D013566:Sympathomimetics; D013726:Terbutaline