A 7-year-old boy, firstborn of non-consanguineous parents, presented to our institute with recurrent episodes of colitis noted from early infancy. The child underwent colonoscopy five times from different hospitals in the last 6 years and was diagnosed with inflammatory bowel disease. A colonoscopy revealed diffuse erosions, ulcerations, granularity, and loss of vascularity in the rectum, sigmoid colon, and descending colon. In addition, the transverse colon showed discrete erosions. However, ascending colon and terminal ileum were found to be normal. Colonoscopy-guided biopsy showed patchy ulcers with neutrophilic exudate, crypt abscess, and crypt loss. Multiple mucosal granulomas with dense epithelioid cells were noted. He was managed as a case of inflammatory bowel disease with mesalamine and intermittent doses of oral glucocorticoids. He showed clinical response with oral glucocorticoids; however, symptoms recurred once the steroid doses were tapered or stopped. For the same, the child was later initiated on oral mesalamine, which was continued for the last 3 years. He had a past history of Burkholderia cepacia septicaemia at 3 years, pneumonia requiring hospital admission at 5 years, and an episode of cervical lymphadenitis at 6 years. He had received one course of antitubercular therapy (ATT) based on empirical grounds. NBT assay was performed on multiple occasions at different facilities; however, there was a reduction of NBT to formazan on every occasion that was not conclusively suggestive of CGD.
He had an average build and a healthy scar the bacille Calmitte-Guerin (BCG) vaccination site. He had moderate pallor and left anterior lower cervical lymphadenopathy. The rest of the clinical examination was unremarkable. Complete blood count showed anaemia (Hb 7 g/L), neutrophilic leukocytosis (total leucocyte count 14.1 x 109/L; polymorphs 66%, lymphocytes 26%, monocyte 7%, and eosinophil 1%), and thrombocytosis (platelet 498 x 109/L). Erythrocyte sedimentation rate was 70 mm at the first hour. C-reactive protein was 66 mg/L. Fine needle aspiration cytology from the cervical lymph node showed scattered multinucleated giant cells along with few immunoblasts, plasma cells, and histiocytes. Cartridge-based nucleic acid amplification test (CBNAAT) from lymph node aspirate revealed Mycobacterium tuberculosis complex. Endoscopic biopsy from the sigmoid colon revealed features suggestive of inflammatory colitis (Figure 1).