J Korean Radiol Soc.  2004 May;50(5):375-378. 10.3348/jkrs.2004.50.5.375.

Diffuse Esophageal Leiomyomatosis in a Child with Alport Syndrome: Case Report

• Ko HS
• Goo HW
• Yoon CH

• KMID: 1593969
• DOI: http://doi.org/10.3348/jkrs.2004.50.5.375

Abstract

Diffuse esophageal leiomyomatosis is an exceedingly rare, benign, neoplastic condition occurring predominantly in children and young adults. This condition may occur as an isolated finding, or it may be associated with Alport syndrome. We report a case of diffuse esophageal leiomyomatosis with Alport syndrome in a 5-year-old girl who had presented with recurrent pneumonia, and present a review of the literature. We suspected Alport syndrome in the patient because she had a clinical history of congenital cataracts and hematuria, as well as imaging findings of diffuse esophageal leiomyomatosis. Alport syndrome was subsequently confirmed by electron microscopy of the kidney.

Keyword

Leiomyomatosis; Alport syndrome; Esophagus, neoplasms

MeSH Terms

Cataract
Child*
Child, Preschool
Female
Hematuria
Humans
Kidney
Leiomyomatosis*
Microscopy, Electron
Nephritis, Hereditary*
Pneumonia
Young Adult