Korean J Gastrointest Endosc.  2001 Feb;22(2):96-100.

A Case of Secondary Achalasia Presented by Diffuse Leiomyomatosis of Alport Syndrome

• Soh JE
• Chang YW
• Kim BS
• Lee DK
• Han YS
• Dong SH
• Kim HJ
• Kim BH
• Lee JI
• Park JC
• Chang R

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.

Keyword

Alport syndrome with diffuse leiomyomatosis; Secondary achalasia

MeSH Terms

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
Retinaldehyde