Hereditary megaduodenum

Abstract

Hereditary megaduodenum is a rare disease with autosomal dominant transmission characterized by visceral myopathy that involves the digestive and urinary tracts, and usually presents as intestinal pseudo-obstruction. Recently, a high rate of spontaneous chromosomal damage was found in blood lymphocytes of patients with hereditary megaduodenum, predictive of an increased cancer risk. Clinical manifestations of the disease vary, ranging from severe pseudo-obstruction to asymptomatic family members; recurrent urinary tract infections are common. Histology reveals vacuolar degeneration and fibrosis of the longitudinal layer of gastrointestinal muscle. This disease should be suspected in patients with an enlarged duodenum but no mechanical obstruction. Treatment is symptomatic and based on diet and control of bacterial overgrowth. Enteral or parenteral nutrition may be needed. Laterolateral duodenojejunostomy and gastrojejunostomy may sometimes be helpful to relieve obstructive symptoms. The risk of cancer in patients with hereditary megaduodenum is still unknown. This paper describes a family with hereditary megaduodenum in which one of the three affected members died of esophageal carcinoma and reviews the literature on the disease with particular attention to reports of cancer.