mNGS and GeneXpert Crack a Complex Case of Infantile Endobronchial Tuberculosis
A case report describes a 40-day-old infant with endobronchial tuberculosis complicated by IKZF1 immunodeficiency and Pneumocystis co-infection. Metagenomic NGS of bronchoalveolar lavage identified P. jirovecii, while GeneXpert confirmed MTB. The case illustrates how combining mNGS with targeted molecular tests can resolve diagnostically challenging paediatric infections with overlapping pathogens.
The original study
Diagnostic and therapeutic journey of infantile endobronchial tuberculosis: a case report.
- Authors
- Li Z, Zhang Y, Xu D, Huang B
- Journal
- Frontiers in pediatrics
- PMID
- 41878461
Original abstract
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.