Familial diffuse gastroesophageal leiomyomatosis: A presentation in a mother and her son with Alport syndrome.
- Author:
Song Mi MOON
1
;
Young Woon CHANG
;
Jae Young JANG
;
Yoon Wha KIM
;
Hyo Jong KIM
;
Byung Ho KIM
;
Rin CHANG
Author Information
1. Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Korea. cywgi@chollian.net
- Publication Type:Case Report
- Keywords:
Leiomyomatosis;
Alport syndrome
- MeSH:
Basement Membrane;
Collagen Type IV;
Deafness;
Family Characteristics;
Humans;
Korea;
Leiomyomatosis;
Mothers;
Muscle, Smooth;
Nephritis;
Nephritis, Hereditary
- From:Korean Journal of Medicine
2010;79(2):171-176
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Diffuse gastroesophageal leiomyomatosis is a rare, benign neoplastic condition characterized by thickening of the esophageal wall as a result ofaberrant smooth muscle proliferation. Gastroesophageal leiomyomatosis may occur in isolation or as a familial disorder and has been associated with other conditions, such as Alport syndrome. Alport syndrome is a hereditary disorder of basement membrane type IV collagen, characterized by progressive nephritis, sensorineural deafness and ocular abnormalities. In this article, we present an interesting case of gastroesophageal leiomyomatosis occurring in a single family in whichthe mother and her son had Alport syndrome. This case is the first report in Korea that gastroesophageal leiomyomatosis is associated with two generations of Alport syndrome.
