An unusual cause of pseudoachalasia

Abstract

Alport syndrome (AS) is a hereditary disease characterized by glomerular nephropathy progressing to end-stage renal disease, frequently associated with sensorineural deafness and ocular abnormalities. Rarely, AS coexists with diffuse leiomyomatosis, a benign proliferation of smooth muscle in the gastrointestinal tract, mostly of the oesophagus, but also of the tracheobronchial tree and the female genital tract. Patients with this association have been shown to have contiguous gene deletion involving both COL4A5 and COL4A6 genes. The authors report the case of a 25-year-old man with AS and long-standing dysphagia. The patient received a renal transplant at the age of 23 because of end-stage renal disease. Clinical assessment as well as endoscopic, manometric and radiologic studies suggested the diagnosis of achalasia, which was treated by Heller's myotomy with Dor fundoplication. Postprocedure dysphagia led to an endoscopic ultrasound that showed diffuse thickening of the second layer, resulting in the hypothesis of oesophageal leiomyomatosis. The diagnosis was confirmed through histological study of endoscopic biopsies and genetic analysis.

Budd-Chiari Syndrome and Esophageal Achalasia: Unrecognized Intrahepatic Cholangiocarcinoma Invading Multiple Organs

“…Secondary esophageal achalasia is generally believed to result from incomplete relaxation of the lower esophageal sphincter due to extra-esophageal disease, such as gastric cancer invasion or metastasis from other tumors (13-16). Achalasia in the present case was induced by direct invasion of the esophageal adventitia by the ICC, which was confirmed by an autopsy.…”

“…Primary esophageal achalasia results from a decrease in the number of neurons in the myenteric plexuses, while secondary esophageal achalasia results from extra-esophageal diseases, such as gastric cancer, ICC, breast cancer, or other diseases (13-16). …”

Extensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report

“…The presenting symptoms of dysphagia and odynophagia in young patients often leads to investigations and to the erroneous diagnosis of achalasia and megaesophagus in more than 50% of cases [7] . EUS seems to be the single best diagnostic study to confirm leiomyomatosis and could potentially avoid unnecessary and potentially harmful surgery [5] .…”

Esophageal Leiomyomatosis Complicated with Achalasia in a Child With Alport Syndrome

“…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).…”