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A Case of Alport Syndrome Associated with Diffuse Esophageal Leiomyomatosis  

Jung, Jin Young (Department of Pediatrics, College of Medicine, University of Ulsan)
Kim, Cheol-Min (Department of Pediatrics, College of Medicine, University of Ulsan)
Lim, Yean Jung (Department of Pediatrics, College of Medicine, University of Ulsan)
Kim, Ja Hyung (Department of Pediatrics, College of Medicine, University of Ulsan)
You, Chong Woo (Department of Diagnostic Pathology, College of Medicine, University of Ulsan)
Choi, Bo-Hwa (Department of Pediatrics, College of Medicine, University of Ulsan)
Hong, Soo-Joung (Department of Pediatrics, College of Medicine, University of Ulsan)
Park, Young Seo (Department of Pediatrics, College of Medicine, University of Ulsan)
Publication Information
Clinical and Experimental Pediatrics / v.45, no.9, 2002 , pp. 1160-1164 More about this Journal
Abstract
We report a case of Alport syndrome associated with esophageal leiomyomatosis, presenting as recurrent pneumonia. A 5-year old girl who had a history of cataract visited the out patient clinic with a complaint of recurrent wheezing and respiratory difficulty which had started five months previously. Chest magnetic resonance image(MRI) and esophagography, checked on the suspicion of achalasia, revealed esophageal leiomyomatosis and renal biopsy revealed Alport syndrome. In the pediatric population, this tumor is a rare cause of dysphagia and is often misdiagnosed as an esophageal motility disorder. Although a number of Alport syndrome associated with leiomyomatosis were reported in the literature, this is a second case report presented with recurrent pneumonia in Korea.
Keywords
Alport syndrome; Esophageal leiomyomatosis; Recurrent pneumonia;
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