Skull changes in eighteen cases of dystrophia myotonica.

Abstract

Dystrophia myotonica (myotonica atrophica) is a heredofamilial disorder which is inherited as an autosomal dominant. When the disease first appears in a family, it presents with cataract. This may be the only detectable evidence of the disease in one or two or maybe three generations. Usually, however, in the second or so-called dystrophic generation, the cataract develops at an earlier age and other features of the fully developed disorder appear, such as myotonia, muscle wasting, gonadal atrophy, frontal baldness, and cardiac abnormalities of conduction and rhythm. Few authors have referred to the radiographic changes in the skull in these patients. SCHARNKE and FULL (1920) reported in one case large frontal sinuses with a normal pituitary fossa. ROUQUES (1931) described the skull roentgenographic findings in four patients with dystrophia myotonica but did not emphasize this as an aspect of the disorder. In his cases there was thickening of the calvaria in three, in two the sella turcica was small, in two the frontal sinuses were large, and in two there was a bridged sella. FAGIN (1946) reported hyperostosis frontalis in one male patient. One of us (CAUGHEY & BROWN 1950) in an endocrine study of nine cases of dystrophia myotonica reported on the radiographic skull changes and suggested that these should come to be