title: Leiomyomatosis of oesophagus, congenital cataracts and hematuria. Report of a case with rectal involvement.
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.
authors.affiliation: Ambulatorio di Genetica Medica, Istituto G. Gaslini, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: P
authors.initials: P
authors.lastname: Dodero
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: G
authors.initials: G
authors.lastname: Martucciello
authors.forename: P E
authors.initials: PE
authors.lastname: Caffarena
authors.forename: M
authors.initials: M
authors.lastname: Brisigotti
authors.forename: P
authors.initials: P
authors.lastname: Toma
authors.forename: A
authors.initials: A
authors.lastname: Taccone
authors.forename: M
authors.initials: M
authors.lastname: Silengo
mesh_terms: D002386:Cataract / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D002675:Child, Preschool; D004938:Esophageal Neoplasms / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006417:Hematuria / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007889:Leiomyoma / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000175:diagnosis*; D012004:Rectal Neoplasms / Q000150:complications / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed