Alport’s syndrome: case of a giant esophageal tumor

Abstract

Alport’s syndrome–diffuse leiomyomatosis (AS–DL) is a rare clinical entity. The syndrome consists of hematuric nephropathy, ocular lesions, and sensorineural deafness associated with leiomyomas of the gastrointestinal, respiratory and female reproductive tracts. Esophageal leiomyomatosis is characterized by diffuse proliferation of the esophageal wall smooth muscle layer, causing obstruction. The usual presenting symptom is dysphagia. We describe a patient with Alport’s syndrome associated with a large esophageal leiomyoma with dyspnoea as the first presenting symptom. Imaging such as computed tomography (CT) is useful in aiding diagnosis. A high index of suspicion is needed for diagnosis of Alport’s syndrome in a patient presenting with esophageal leiomyomatosis. Surgical resection is currently the treatment of choice in symptomatic individuals.