Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B.

BackgroundGastrointestinal symptoms are frequent in multiple endocrine neoplasia (MEN) 2B and may be related to megacolon.ObjectiveThe objective of this article is to review the clinical features of patients with MEN 2B, particularly megacolon.MethodsWe used natural language processing of electronic medical records of Mayo Clinic patients over 20 years: Eight patients with definite MEN 2B were identified; of these, four had megacolon. From these patients’ records, three others with paper medical records were identified through familial association. We used a standard data sheet to identify features of the disease with particular emphasis on megacolon.ResultsOf the 11 patients identified with MEN 2B, seven (63%) had megacolon, typically presenting with constipation in infancy or megacolon in childhood. In addition, three patients had esophageal manifestations (two achalasia and one Zenker’s diverticulum). Megacolon often required surgical intervention for intractable constipation, abdominal distension and ...