Tuberculosis presenting with multiple osteolytic lesions in an adolescent boy with fanconi anemia

Abstract

Tuberculosis (TB) is well known to present with varied clinical and radiological features. Multifocal bone involvement in tuberculosis is rare. Multiple lytic lesions raise the possibility of malignancy usually, especially, in children with predisposing conditions like Fanconi anemia. However, a thorough evaluation with repeated attempts at histopathological confirmation and microbiological evaluation is mandatory in children with unique presentations with inconclusive initial diagnostic tests. We report an adolescent boy with an underlying Fanconi anemia who presented with fever, cough and respiratory distress. On evaluation, he had pallor, wasting, features of right upper lobe consolidation and multiple lytic lesions. Initial diagnostic evaluation including bone marrow evaluation and a diagnostic biopsy from ribs and bronchoalveolar lavage failed to yield a conclusive diagnosis. After nearly 5 weeks of broad-spectrum antibiotics and antifungals, as the clinical signs were progressing, a complete re-evaluation including biopsy from the rib lesion was done and further, he was diagnosed to have skeletal tuberculosis based on the Mycobacterium Growth Indicator Tube (MGIT) culture for Acid Fast bacilli (AFB). Child was empirically started on anti-tuberculous therapy pending cultures, which have led to significant clinical improvement in 2 weeks of therapy. Low bacterial load in skeletal TB reduces the chance to diagnosis, hence making clinical judgment imperative in diagnosis; and repeated testing is mandatory when there is high index of suspicion.