1. Leiomyomatosis of oesophagus, congenital cataracts and hematuria. Report of a case with rectal involvement.
- Author
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Lerone M, Dodero P, Romeo G, Martucciello G, Caffarena PE, Brisigotti M, Toma P, Taccone A, and Silengo M
- Subjects
- Cataract complications, Cataract congenital, Child, Preschool, Esophageal Neoplasms complications, Female, Hematuria complications, Humans, Leiomyoma complications, Magnetic Resonance Imaging, Neoplasms, Multiple Primary complications, Rectal Neoplasms complications, Tomography, X-Ray Computed, Cataract diagnosis, Esophageal Neoplasms diagnosis, Hematuria diagnosis, Leiomyoma diagnosis, Neoplasms, Multiple Primary diagnosis, Rectal Neoplasms diagnosis
- 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. 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.
- Published
- 1991
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