A Case of Alport Syndrome Associated with
Diffuse Esophageal Leiomyomatosis |
Jin Young Jung1, Cheol-Min Kim1, Yean Jung Lim1, Ja Hyung Kim1, Chong Woo You2, Bo-Hwa Choi1, Soo-Joung Hong1, Young Seo Park1 |
1Department of Pediatrics, College of Medicine, University of Ulsan, Seoul, Korea 2Department of Diagnostic Pathology, College of Medicine, University of Ulsan, Seoul, Korea |
식도 평활근종증이 동반된 Alport 증후군 1례 |
정진영1, 김철민1, 임연정1, 김자형1, 유종우2, 최보화1, 홍수종1, 박영서1 |
1울산대학교 의과대학 소아과학교실 2울산대학교 의과대학 진단병리과학교실 |
Correspondence:
Soo-Joung Hong, Email: sjhong@www.amc.seoul.kr |
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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. |
Key Words:
Alport syndrome, Esophageal leiomyomatosis, Recurrent pneumonia |
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