Leiomyomatosis of oesophagus, congenital cataracts and hematuria - Report of a case with rectal involvement

M. Lerone, P. Dodero, G. Romeo, G. Martucciello, P. E. Caffarena, M. Brisigotti, P. Toma, A. Taccone, M. Silengo

Research output: Contribution to journalArticlepeer-review

Abstract

Isolated oesophageal leiomyomatosis in children is very rare. The association between leiomyomatosis of oesophagus and female genital tract and an Alport like hematuric nephritis has been recognized as a distinct entity by Garcia-Torres and Guarner [1]. Since then few other cases of this syndrome have been observed. Congenital cataracts and neurosensory deafness have been added to the clinical spectrum. Autosomal dominant inheritance is suggested by the familial cases. We report a patient who presents, as a new finding, leiomyomatosis of the rectum.

Original languageEnglish
Pages (from-to)578-579
Number of pages2
JournalPediatric Radiology
Volume21
Issue number8
DOIs
Publication statusPublished - Dec 1991

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging
  • Pediatrics, Perinatology, and Child Health

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