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KMID : 0359020010220020096
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Korean Journal of Gastrointestinal Endoscopy
2001 Volume.22 No. 2 p.96 ~ p.100
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A Case of Secondary Achalasia Presented by Diffuse Leiomyomatosis of Alport Syndrome
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소정은/Joung Eun Soh
장영운/김범식/이동근/한요셉/동석호/김효종/김병호/이정일/박주철/장린/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
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Abstract
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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 flecks. 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.
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KEYWORD
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