A Familial Visceral Myopathy

Abstract

A kindred contained at least 18 members with visceral myopathy; 16 had symptoms of chronic obstruction of the gastrointestinal or urinary tracts. Of 6 patients with megaduodenum on contrast roentgenograms, 2 were asymptomatic. Patients [4] had redundant colon on Ba enema, and 4 had megacystis. Specimens from duodenum, jejunum, ileum, colon, or urinary bladder from 5 patients showed thinning and extensive collagen replacement of the longitudinal muscle layer; ganglion cells were normal by light microscopy and EM. Esophageal manometry in 3 patients showed decreased gastroesophageal sphincter pressures and no contractions in the smooth muscle segment of the esophagus; duodenal manometry showed a low frequency and amplitude of contractions. Patients [3] developed fever and signs of peritonitis after operations to bypass dilated segments. This seems to be a generalized smooth muscle disease with variable clinical manifestations and with an autosomal dominant or sex-linked dominant mode of inheritance.