A Rare Case of Extra-Pulmonary Tuberculosis Presenting as Esophageal Perforation

Abstract Tuberculosis (TB) is an airborne disease caused by Mycobacterium tuberculosis (MTB). TB represents a major global health burden and is the most common cause of infectious disease-related mortality worldwide1. Pulmonary TB (PTB) is the most prevalent clinical manifestation of TB, however extra-pulmonary tuberculosis (EPTB) is less common in developed countries and can involve virtually any organ. Esophageal involvement is exceedingly rare, estimated to account for only 0.15% of deaths from TB2,3. The most common mechanism for esophageal involvement is direct spread from mediastinal structures, or hematogenous or lymphatic spread1.In this case, a 35-year-old African-American previously incarcerated male presented to a hospital in October 2022 with chest pain, fever, difficulty swallowing, and dyspnea. He was found to have an esophageal perforation with mediastinitis, retropharyngeal abscess, and osteomyelitis of cervical/thoracic vertebrae and adjacent ribs due to contiguous spread. Endoscopy showed a 5mm full-thickness tear in the proximal esophagus, and pathology of tissue samples showed submucosal non-necrotizing granulomas. Fluid cultures obtained were negative. Over the next six months, the patient was initiated on several courses of broad-spectrum antibiotics and underwent numerous procedures for persistent esophageal leak. Interval imaging showed extension of the abscess and worsening erosions of involved vertebrae/ribs; pulmonary findings included scattered nodules, possible granuloma, and ground-glass opacities within the right upper lobe. Due to the lack of response to treatment, the patient ultimately underwent mediastinal drainage and surgical repair of the esophagus on 4/6/2023. Pathology of samples from the abscess showed granulation tissue and focal multinucleated giant cell reaction; AFB smear was negative but fluid cultures subsequently grew pan-susceptible MTB. The patient was admitted to an inpatient TB unit in May 2023 and started on combination antitubercular therapy for one year with symptomatic improvement. Follow-up imaging and endoscopy demonstrated healing of the esophageal perforation after approximately four months and the patient was gradually re-established onto a normal diet. This case highlights the challenges of diagnosing EPTB, especially due to the paucibacillary nature of this disease form and the difficulty of acquiring adequate samples. It also underscores the many rare and atypical presentations in which EPTB can manifest. Our case emphasizes the importance of maintaining a high index of suspicion, particularly when risk factors for TB are present, and the need to actively exclude tuberculous disease with multiple diagnostic tools, especially if no other diagnosis is found. With the appropriate therapy and patient adherence, an excellent clinical response can be obtained.