Esophageal smooth muscle tumor in a 25-year-old woman with congenital malformations

J Gastroenterol. 2001 Oct;36(10):700-3. doi: 10.1007/s005350170034.


We recently treated a 25-year-old woman with an esophageal smooth muscle tumor with congenital malformations. Although the large size of the tumor and the presence of hemonecrotic lesion suggested the tumor to be leiomyosarcoma, histological studies revealed it to be leiomyoma. According to previous reports in the English-language literature, the coincidence of esophageal smooth muscle tumor with congenital malformations is relatively rare, and the coincidence of such a tumor with malformations of the type seen in this patient has never been reported. The congenital malformations in our patient were ocular hypertelorism, platyrrhiny, bilateral divergent strabismus, clubbed fingers and toes, fingerprint abnormality, and mild mental retardation. These congenital malformations cannot be explained by any reported syndromes.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Esophageal Neoplasms / diagnosis*
  • Esophageal Neoplasms / pathology
  • Exotropia / congenital
  • Female
  • Humans
  • Hypertelorism
  • Intellectual Disability
  • Leiomyoma / diagnosis*
  • Leiomyoma / pathology
  • Magnetic Resonance Imaging
  • Osteoarthropathy, Secondary Hypertrophic / congenital
  • Tomography, X-Ray Computed