All issues > Volume 45(9); 2002

Case Report

J Korean Pediatr Soc. 2002;45(9):1160-1164. Published online September 15, 2002.

A Case of Alport Syndrome Associated with Diffuse Esophageal Leiomyomatosis

Jin Young JY Jung¹, Cheol-Min CM Kim¹, Yean Jung YJ Lim¹, Ja Hyung JH Kim¹, Chong Woo CW You², Bo-Hwa BH Choi¹, Soo-Joung SJ Hong¹, Young Seo YS Park¹

¹Department of Pediatrics, College of Medicine, University of Ulsan, Seoul, Korea
²Department of Diagnostic Pathology, College of Medicine, University of Ulsan, Seoul, Korea

Correspondence Soo-Joung SJ Hong ,Email: sjhong@www.amc.seoul.kr

Abstract

University of Ulsan, Seoul, Korea 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