A Case of Alport-leiomyomatosis Syndrome Presenting with Leiomyoma of the Esophagus and the Rectum

Norihiko Kitagawa, Noriko Aida1), Kazutoshi Fujita1), Youkatsu Ohhama
Department of Surger y and Radiology1),
Kanagawa Children's Medical Center

Abstract
　Five percent of cases of Alport syndrome have associated leiomyomatosis of the viscera, called Alport-leiomyomatosis syndrome�GA-LS�H. Usually, leiomyomatosis presents in the esophagus, stomach, genital tract or tracheobronchial tract. Here we report a case of a 6-year-old girl presenting with leiomyomatosis not only in the esophagus but also in the rectum. MRI clearly showed thickening of the esophageal wall and the rectal wall. A renal biopsy revealed a partial defect of the alpha-5 chain in the glomerular basement membrane, suggesting A-LS. No surgical treatment has been required because dysphagia and constipation have been mild. Long and frequent follow-up will be needed.

Keywords：Alport syndrome, Leiomyomatosis, Esophagus, Rectum, MRI