Gastroenterology

Gastroenterology

Volume 120, Issue 1, January 2001, Pages 216-220
Gastroenterology

Case Reports
Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease,☆☆,

https://doi.org/10.1053/gast.2001.20883Get rights and content

Abstract

We describe a 25-year-old woman with diffuse esophageal leiomyomatosis. During childhood, achalasia was mistakenly diagnosed in this patient. Subsequently, she underwent cardiomyotomy and developed symptoms of Hirschsprung disease. These symptoms were caused by infiltration of the esophageal and rectal walls by benign muscular hypertrophy. The pseudo-Hirschsprung disorder was manifested by chronic severe constipation, with consistent manometric findings. Clitoral hypertrophy and vulvar and periurethral leiomyoma were also present. Genetic analysis demonstrating deletion of the COL4A5/COL4A6 locus and the discovery of microscopic hematuria implied that the patient could transmit both diffuse leiomyomatosis and the Alport syndrome.

GASTROENTEROLOGY 2001;120:216-220

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.

References (30)

  • C Antignac et al.

    Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis

    Contrib Nephrol

    (1996)
  • S Federici et al.

    Esophageal leiomyomatosis in children: report of a case and review of the literature

    Eur J Pediatr Surg

    (1998)
  • B Prophette et al.

    Leiomyomatose diffuse de l'œsophage

    Ann Pathol

    (1995)
  • J Zhou et al.

    Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors

    Science

    (1993)
  • L Heidet et al.

    Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

    Hum Mol Genet

    (1995)
  • Cited by (0)

    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.

    ☆☆

    Drs. Guillem and Delcambre contributed equally to this work.

    Supported by the Association Française contre les Myopathies, the Association pour la Recherche sur le Cancer, and the Ligue Nationale contre le Cancer.

    View full text