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Diagnostic and therapeutic journey of infantile endobronchial tuberculosis: a case report
Zhi Li1,2, Yi Zhang3, Deyong Xu1,2
1Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, China.
Insights
Infantile endobronchial tuberculosis (EBTB) co-occurring with immunodeficiency and Pneumocystis jirovecii infection presents diagnostic challenges. Early bronchoscopy and combined therapies achieved remission in a rare infant case.
Area of Science:
- Pediatric Pulmonology
- Infectious Diseases
- Immunology
Background:
- Infantile endobronchial tuberculosis (EBTB) is rare and often missed due to vague symptoms.
- Primary immunodeficiency and opportunistic infections complicate diagnosis and treatment of EBTB.
- This case involves a 40-day-old infant with fever and cough, initially treated with broad-spectrum antibiotics.
Background:
Endobronchial tuberculosis (EBTB) in infants is rare and is often overlooked because of nonspecific clinical manifestations. Coexisting primary immunodeficiency and opportunistic infections further increased diagnostic and therapeutic complexity.
Case Presentation:
We reported a male infant aged 40 days who presented with fever and mild cough. Chest imaging showed progressive bilateral nodular and granulomatous lesions despite broad-spectrum antibacterial therapy. Microbiological evaluation revealed positive T-SPOT.TB and GeneXpert MTB/RIF results from bronchoalveolar lavage fluid (BALF), while metagenomic next-generation sequencing identified Pneumocystis jirovecii. Genetic testing demonstrated a heterozygous IKZF1 mutation, consistent with underlying immunodeficiency. Serial bronchoscopies confirmed necrotizing endobronchial tuberculosis with airway stenosis. The patient received standard anti-tuberculosis therapy, systemic corticosteroids, trimethoprim-sulfamethoxazole, intravenous immunoglobulin, and repeated bronchoscopic intraluminal drug delivery. Clinical and radiological remission was achieved, with no airway sequelae during 18-month follow-up.
Conclusions:
This case highlighted the unique coexistence of infantile EBTB, IKZF1-related immunodeficiency, and P. jirovecii coinfection. Early bronchoscopy played a pivotal diagnostic and therapeutic role. Repeated intraluminal bronchoscopic therapy combined with systemic treatment might prevent irreversible airway damage in severe pediatric EBTB.
