[Hereditary visceral myopathy: an entity in idiopathic intestinal pseudo-obstruction]

Abstract

A 17 year-old girl with chronic idiopathic intestinal pseudo-obstruction is reported. Abnormalities of smooth intestinal muscle were shown on light and electron microscopic studies of the excised small intestine and led to the diagnosis of visceral myopathy based on the following features: vacuolar degeneration of intestinal smooth muscle cells with replacement by fibrous preferential involvement of the external longitudinal muscle layer normal myenteric plexus. For the first time similar ultrastructural changes were found on histological study of the colon. Manometric studies revealed a diffuse disease involving the esophagus, small bowel, and bladder. Anorectal abnormalities, never described before, were reported. Family involvement was shown by abnormal esophageal and anorectal manometries in the patient's brother and by paternal history of fatal small intestine occlusion without mechanical obstruction. The prognosis of severe forms of visceral myopathy is generally poor because of the inefficiency of drugs. In this case, after a long period of parenteral nutrition with maintenance of a good nutritional status, a terminal ileostomy (with a special procedure to avoid evagination) associated with a second stage total colectomy allowed to stop parenteral nutrition.