title: [Diffuse esophageal leiomyomatosis. Apropos of 5 cases with 2 familial cases].
abstract: Diffuse esophageal leiomyomatosis is characterized by diffuse muscular hypertrophy chiefly marked in the lower end of the esophagus looks at a large tumor. It involves the entire length of the esophagus and down to the upper part of the stomach (esogastric leiomyomatosis). Diffuse leiomyomatosis is a extremely rare pathology encountered in children (13 previous report cases) and young adults. Il may be isolated or found in association with other intrathoracic and genital localisations or Alport syndrome (nephropathy, sensorineural deafness, ocular lesions). Extensive leiomyomatosis, engulfing the trachea and stem bronchi, may involve acute respiratory insufficiency. Genital localisations, exclusively in women (clitoral hypertrophy, vulvar leiomyomatosis), in association with esophageal leiomyomatosis, realize the esophago vulvar syndrome. Recently, familial diffuse leiomyomatosis cases were described with, in association, esophageal and extra-esophageal leiomyomatosis and Alport syndrome. The majority of the patients developed esophageal or respiratory symptoms. The radiological appearance is that of a mediastinal tumor or achalasia. CT Scans findings can give evidence diffuse muscular thickening of esophageal wall. Prognosis depends on the associated lesions. In that reports, two young adults (27 and 39 years old) died of inhabitual carcinomas (esophageal and gallbladder carcinoma). The only surgical treatment for symptomatic esogastric leiomyomatosis is subtotal esophagectomy with proximal gastrectomy and esocoloplasty. Myotomy is ineffective (2 cases). Five cases of esophageal leiomyomatosis are described (3 children, 2 young adults). Among these, two are familial leiomyomatosis cases. An esophageal resection was performed in four patients.
authors.forename: J
authors.initials: J
authors.lastname: Leborgne
authors.forename: J C
authors.initials: JC
authors.lastname: Le Neel
authors.forename: Y
authors.initials: Y
authors.lastname: Heloury
authors.forename: A F
authors.initials: AF
authors.lastname: Audoin
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: J M
authors.initials: JM
authors.lastname: Babut
authors.forename: Y
authors.initials: Y
authors.lastname: Lenne
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004938:Esophageal Neoplasms / Q000150:complications / Q000235:genetics* / Q000601:surgery; D004944:Esophagoplasty; D004947:Esophagus / Q000473:pathology; D005260:Female; D005833:Genital Neoplasms, Female / Q000150:complications*; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications / Q000235:genetics*; D013577:Syndrome
vernacular_title: La leiomyomatose oesophagienne diffuse. A propos de 5 observations dont 2 cas familiaux.