[Familial esophageal leiomyomatosis associated with Alport's syndrome in a 9-year-old boy].
The authors describe a family in which the mother and one son are affected by oesophageal leiomyomatosis and nephritis with haematuria. The mother also presents hypertrophy of vulva and clitoris, and her son has perceptive deafness and congenital cataract. In the medical literature only 15 cases of oesophageal leiomyomatosis in children and adolescents could be found. The association with Alport's syndrome was first described by Torres and Guarner in 1983.
D000328:Adult; D002648:Child; D004938:Esophageal Neoplasms / Q000150:complications / Q000235:genetics* / Q000601:surgery; D005260:Female; D006801:Humans; D007889:Leiomyoma / Q000150:complications / Q000235:genetics* / Q000601:surgery; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000235:genetics
Léiomyomatose oesophagienne familiale associée à un syndrome d'Alport chez un garçon de 9 ans.