An Extremely Rare Cause of Dysphagia

Abstract

Question: A 52-year-old woman presented to our department with a 1-month history of progressive dysphagia for solids and weight loss (<10% of total weight). Her past medical history included cigarette smoking (15 pack-years) without medication, alcohol, or drug consumption, nor familiar risk factors. The patient denied other symptoms like anorexia, nausea, heartburn, retrosternal chest pain, abdominal pain, or gastrointestinal bleeding. On physical examination, she presented with a global decrease of the breath sounds. Laboratory data had no changes, like anemia or increased inflammatory parameters. Upper endoscopy revealed extensive submucosal blebs that collapsed with insufflation and were distributed over the esophagus circumference, especially in the medial and distal portions (Figure A–D), without involvement of the stomach or duodenum. To confirm and complete this rare diagnose, a computed tomography (CT) scan of the chest was performed showing intramural gas within the wall of the esophagus and an extensive pulmonary emphysema (Figure E, F). The patient started oral metronidazole, 500 mg 3 times per day and ceased smoking. After 2 weeks of treatment, the patient was asymptomatic. Upper endoscopy, after 1 month of therapy, showed substantial improvement of the esophageal lesions. Some residual lesions were also treated using an endoscopy injection needle to “bust” the blebs (Figure G). After 6 months of follow-up, the patient remains asymptomatic. What is the diagnosis? Look on page 32 for the answer and see the Gastroenterology website (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and images in GI. Gastrointestinal pneumatosis is a rare condition characterized by the presence of air in the submucosal and/or subserosal spaces. The pathogenesis remains unclear, but it probably is a multifactorial condition, and can affect any part of the gastrointestinal tract, frequently the bowel.1Yahng S.A. Kim H.J. Fortuitous detection of esophageal pneumatosis in a neutropenic patient.Korean J Hematol. 2011; 46: 151Crossref PubMed Scopus (2) Google Scholar Esophageal pneumatosis is extremely rare, with only 9 cases reported in the literature.2Chemimilla H. Makker J.S. Dev A. Incidental finding of esophageal pneumatosis.World J Gastrointest Endosc. 2013; 16: 74-78Crossref Google Scholar In contrast with our patient, who presented with dysphagia, most cases of esophageal pneumatosis are incidental findings in asymptomatic patients. The diagnosis is usually made by endoscopy and imaging modalities, particularly CT scan as the most sensitive diagnostic test.2Chemimilla H. Makker J.S. Dev A. Incidental finding of esophageal pneumatosis.World J Gastrointest Endosc. 2013; 16: 74-78Crossref Google Scholar As demonstrated in this case, the classic endoscopic appearance is the presence of air bubbles in the esophageal submucosa, which collapse with insufflation. The characteristic features on the CT scan are circumferential intramural collections of air. Two different theories have been described to explain this condition, one based on bacterial proliferation and the other on emphysematous mechanism. In our patient, we hypothesize that the cause of esophageal pneumatosis is probably related to the underlying obstructive pulmonary disease secondary to long-standing smoking. Being most often a benign condition, management of gastrointestinal pneumatosis depends on the severity of symptoms, disease extension, and underlying cause. Different treatments have been described, including antibiotics, oxygen therapy, and surgery.3Mclaughlin S.A. Nguyen J.H. Conservative management of nongangrenous esophageal and gastric pneumatosis.Am Surg J. 2007; 73: 862-864Crossref PubMed Google Scholar In this case, the treatment regimen with metronidazole and smoking cessation was effective. This case illustrates a rare and unusual cause of dysphagia, with unique features. First, we are reporting the tenth case of esophageal pneumatosis and the first presenting with dysphagia. Second, treatment of esophageal pneumatosis remains controversial because of the rarity of the disease. Like in our case, several cases reported antibiotic therapy with metronidazole as an effective treatment, supporting the bacterial mechanism of pathogenesis. Endoscopic modalities of therapy with cyst puncture and sclerotherapy have also been reported to be safe, especially for patients who develop obstructive symptoms. Finally, this case illustrates an uncommon endoscopic finding. Gastroenterologists should be aware of the possibility of this unusual cause of dysphagia.