Esophageal Leiomyomatosis Complicated with Achalasia in a Child With Alport Syndrome

Abstract

A 6-year-old girl with congenital cataract had experienced intermittent chest pain and dysphagia for 2 years. An upper gastrointestinal contrast study showed dilatation of the esophagus without radiological evidence of achalasia. For determining the etiology, computed tomography was performed and revealed dilatation with circumferential wall thickening of the entire esophagus (Fig. 1). Esophagogastroduodenoscopy found Los Angeles grade B reflux esophagitis. Endoscopic biopsy confirmed esophageal leiomyomatosis. In addition to microscopic hematuria, Alport syndrome was diagnosed. Esophageal manometry revealed elevated integrated relaxation pressure and 100% failed peristalsis during liquid swallows, confirming type 1 esophageal achalasia (Fig. 2). Her symptoms subsided after treatment with lansoprazole and bethanechol for 6 months.Alport syndrome is a clinically and genetically heterogeneous disease characterized by kidney disease, sensorineural deafness, and ocular abnormalities (1). A subset of patients with Alport syndrome have esophageal leiomyomatosis, which is characterized by the proliferation of esophageal smooth muscle and thickening of a considerable portion of the esophagus (2,3). Esophageal leiomyomatosis can cause esophageal achalasia presenting as dysphagia (2-6). Surgical intervention with partial or subtotal esophageal resection and replacement is recommended in such patients (3). According to the clinical course of the present patient, conservative treatment might be helpful for relieving symptoms in patients with Alport syndrome and esophageal leiomyomatosis.