Chronic idiopathic megaduodenum in a family.
This paper reports a family in which idiopathic megaduodenum occurred. The index case was a 17 year old male with lifelong steatorrhea, episodic vomiting of food consumed days before, offensive belching, and recurrent abdominal pain and distention. The diagnosis was made by a barium meal examination, but only after a failed small bowel biopsy suggested some anatomical abnormality. Direct questioning about family members then revealed that his father, aged 43 years, had similar symptoms and a subsequent barium meal confirmed the diagnosis. Screening of the family revealed megaduodenum in the 20 year old sister who was totally asymptomatic and had normal fecal fat levels but an abnormal breath test. The remainder of the family members were asymptomatic and had normal radiology. This family, in which idiopathic megaduodenum occurred in three of six members, is reported because it illustrates some of the features of idiopathic megaduodenum and chronic idiopathic intestinal pseudo-obstruction. It also demonstrates the need to investigate the families of apparent sporadic cases. Such investigation may uncover additional symptomatic and asymptomatic individuals who may be presenting diagnostic difficulty, and who, by virtue of an early diagnosis, may be spared unnecessary surgery.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D001944:Breath Tests; D002908:Chronic Disease; D003937:Diagnosis, Differential; D004378:Duodenal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D004386:Duodenum / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography