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KMID : 0882420100790020171
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Korean Journal of Medicine
2010 Volume.79 No. 2 p.171 ~ p.176
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Familial diffuse gastroesophageal leiomyomatosis: A presentation in a mother and her son with Alport syndrome
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Moon Song-Mi
Chang Young-Woon
Jang Jae-Young
Kim Youn-Hwa
Kim Hyo-Jong
Kim Byung-Ho
Chang Rin
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Abstract
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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.
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KEYWORD
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Leiomyomatosis, Alport syndrome
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