[Intestinal myopathy in Steinert's disease]

Abstract

The myothonic dystrophy or Steinert's disease is a congenital, autosomal, dominant disorder which seriously affects the striated muscle and also to a certain extent, several organs and systems and on rare occasions, the intestinal smooth muscle. In the case, we treated a four years old girl in whom Steinert's disease was diagnosed when she was born and who developed the characteristics of severe constipation after a few months of life. The ano-rectal manometry showed a paradoxical reaction of external Sphincter with a normal inhibitory reflex. The rectal biopsy revelated a miophathy which affected the muscularis propia with the normal neuronal innervation. The X-ray studies showed that motility disorder was stopped in the distal area of the left colon. A colostomy in the healthy zone worked extremely well. Six months later, the normal colon was brought down retro-rectal. Only a partial incontinence remained in the external sphincter caused by Steinert's disease. The interest of this case lies in the pathological association, striade muscle and smooth muscle, in such an early age of life. It is a new contribution to the complex chapter of the intestinal pseudo-obstruction.