Lenard H G, Goebel H H, Weigel W
Neuropadiatrie. 1977 Feb;8(1):42-52. doi: 10.1055/s-0028-1091503.
Dysfunction of smooth muscles is not unusual in adults suffering from myotonic dystrophy but has not yet been reported in patients with the congenital form of the disease. Of two brothers, the younger one presented with the typical features of congenital myotonic dystrophy at birth. He developed severe constipation due to megacolon during his second year of life. In the older brother disturbances of gastrointestinal motility, causing repeated bouts of subileus during the newborn period, sprue-like symptoms during early childhood, and megacolon with constipation and incontinence later on, remained the only manifestation of myotonic dystrophy until the age of eight years when the diagnosis could be finally established by electromyography.
平滑肌功能障碍在成年型强直性肌营养不良患者中并不罕见,但在先天性强直性肌营养不良患者中尚未见报道。有两兄弟,弟弟出生时即表现出先天性强直性肌营养不良的典型特征。他在1岁时因巨结肠出现严重便秘。哥哥在新生儿期出现胃肠动力紊乱,导致反复发作的亚肠梗阻,幼儿期出现口炎性腹泻样症状,后来出现巨结肠伴便秘和大小便失禁,直到8岁时通过肌电图最终确诊,在此之前胃肠动力紊乱一直是强直性肌营养不良的唯一表现。