Multiple anomalies, hypokalemic paralysis and partial symptomatic relief by terbutaline |
| |
Authors: | MS Djurhuus,NAH Klitgaard,BM Jensen,PE Andersen,HD Schrø der |
| |
Affiliation: | Departments of Clinical Biochemistry and Genetics, Odense University Hospital, 5000 Odense C, Denmark;Medicine, Odense University Hospital, 5000 Odense C, Denmark;Diagnostic Radiology, Odense University Hospital, 5000 Odense C, Denmark;Pathology, Odense University Hospital, 5000 Odense C, Denmark |
| |
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. |
| |
Keywords: | Andersen's syndrome beta-2-stimulation dysostosis mandibulofacialis fibre-type disproportion long QT interval muscle electrolytes Na+/K+-transportingATPase Treacher Collins' syndrome ventricular ectopy |
|
|