A Case of Secondary Achalasia Presented by Diffuse Leiomyomatosis of Alport Syndrome.
- Author:
Joung Eun SOH
1
;
Young Woon CHANG
;
Bum Shik KIM
;
Dong Keun LEE
;
Yo Seb HAN
;
Seok Ho DONG
;
Hyo Jong KIM
;
Byung Ho KIM
;
Joung Il LEE
;
Joo Chul PARK
;
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:
Alport syndrome with diffuse leiomyomatosis;
Secondary achalasia
- MeSH:
Adolescent;
Cataract;
Deglutition Disorders;
Esophageal Achalasia*;
Esophagectomy;
Female;
Glomerular Basement Membrane;
Hearing Loss, Sensorineural;
Hematuria;
Humans;
Korea;
Leiomyomatosis*;
Male;
Nephritis, Hereditary*;
Penetrance;
Proteinuria;
Retinaldehyde;
Vomiting
- From:Korean Journal of Gastrointestinal Endoscopy
2001;22(2):96-100
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Alport syndrome (AS) is one of the most common familial nephropathy characterized by microscopic hematuria with or without proteinuria, irregular thickening or thinning of the glomerular basement membrane, progressive bilateral sensorineural hearing loss and ocular changes including anterior lenticonus and retinal lecks. AS with diffuse leiomyomatosis (ASDL) is defined by the association of AS with esophageal, tracheobronchial, and genital leiomyomatosis. Since the first case of ASDL was reported in 1983, a number of cases have been reported in the western countries. ASDL has a X-linked dominant trait with different penetrance and expressivity between female and male. We experienced an ASDL who is the first case in Korea. A 13-year-old boy was diagnosed as AS by microscopic hematuria, sensorineural hearing loss and congenital cataract. And also he had suffered from achalasia symptoms such as severe dysphagia and frequent vomiting due to diffuse esophageal leiomyomatosis. The lesion was confirmed by total esophagectomy and pathologic findings.
