Origin of Idiopathic Fevers in Patents with Craniocarpotarsal Dysplasia (Freeman-Sheldon syndrome)

ABSTRACT Craniocarpotarsal dysplasia, or Freeman-Sheldon Syndrome, is an extremely rare congenital musculo-skeletal condition. Chamberlain and Poling (unpublished) documented the occurrence of unexplained episodic fever in their patient, who had to-date the most severe expression of Freeman-Sheldon syndrome. We postulate, as already documented in other myopathies, these idiopathic febrile episodes in our Freeman-Sheldon syndrome patient may share physiologic and biochemical similarities to the well-defined congenital muscle anomaly, malignant hyperthermia, which occurs when susceptible individuals receive inhaled anesthetics, such as ether and halothane, or depolarising muscle relaxants during surgery. In malignant hyperthermia, extreme fever results from muscle metabolic changes caused by the anesthetics. We, also, hypothesize that there is a correlation between the idiopathic fever and the severity of physical or mental stress in patients with craniocarpotarsal dysplasia. The episodic fever in Freeman-Sheldon syndrome will be investigated to identify possible muscle changes, which could account for temperature changes; to determine the plausibility of a correlation of these febrile episodes with stress; and to confirm whether febrile episodes are indeed linked with malignant hyperthermia, which has already been linked with craniocarpotarsal dysplasia.