Case ReportsDiffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease☆,☆☆,★
Section snippets
Case report
A 25-year-old-woman was referred for chronic constipation, vulvar, and clitoral hypertrophy. Her medical history included bilateral congenital cataracts (of unknown origin) and, when she was 9 years old, she underwent cardiomyotomy for apparent idiopathic achalasia. Marked thickening of the esophageal wall's lower end was noted at that time. The diagnosis of Hirschsprung disease was suggested when the patient was 13 years old, on the basis of chronic constipation, rectal dilatation (on barium
Discussion
DL is a rare condition characterized by marked localized thickening of the esophageal wall because of benign muscle cell proliferation.1 It is traditionally distinguished from other pathologic conditions such as multiple leiomyomas, sometimes confluent within the esophageal wall or diffuse thickening of the muscular layers.19, 20, 21 Histologic examination of the thickened esophageal muscular layers shows extensive replacement of the normal fiber pattern by irregular plexiform fibers. DL may
Acknowledgements
The authors thank Dr. Michael Camilleri for critical reading of the manuscript.
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Address requests for reprints to: Philippe Guillem, M.D., Service de Chirurgie Digestive et Générale, Hôpital Claude Huriez, Centre Hospitalier et Universitaire de Lille, France. e-mail: [email protected]; fax: (33) 3-20-44-44-07.
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Drs. Guillem and Delcambre contributed equally to this work.
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Supported by the Association Française contre les Myopathies, the Association pour la Recherche sur le Cancer, and the Ligue Nationale contre le Cancer.