Ultrasound: A Helpful Diagnostic Tool in Esophageal Leiomyomatosis with Alport Syndrome

Introduction

Esophageal leiomyomatosis is a rare condition causing leiomyomatous thickening of all or part of the esophagus. It occurs predominantly in children and younger adults (Lonsdale RN et al. Familial oesophageal leiomyomatosis and nephropathy. Histopathology 1992; 20: 127 – 133). Patients usually present with progressive dysphagia and other gastrointestinal complaints such as acid reflux (Fernandes JP et al. Diffuse leiomyomatosis of the esophagus. Digest Dis 1975; 20: 684 – 690). Alport’s syndrome is a genetic disorder that is mainly inherited as a dominant X-linked trait and is caused by mutations in the collagen type 4 biosynthesis genes (Antignac C et al. Alport syndrome and diffuse leiomyomatosis: Deletions in the 5’ end of the COL4A5 collagen gene. Kidney Int 1992; 42: 1178 – 1183). It is characterized by glomerulonephritis progressing to endstage kidney disease and hearing loss and can also affect the eyes. The prevalence of Alport’s syndrome is estimated to be about 1 in 7500. 80 % are males. The conincidence with diffuse leiomyomatosis has been reported in about 5 % of all Alport patients.