Genetically confirmed chronic granulomatous disease in a Kenyan child: case report

IntroductionWe report the first case of genetically confirmed chronic granulomatous disease (CGD) in a Kenyan child.Clinical findingsA 7-month-old male infant, the only child of non-consanguineous parents, presented with cough, fever, fast breathing, oral thrush, and axillary lymphadenopathy ipsilateral to the Calmette–Guérin bacillus scar. He had been hospitalized 5 weeks prior for severe pneumonia. Plain chest radiography showed bilateral patchy airspace opacification; chest computed tomography revealed multiple large lung nodules and left axillary lymphadenopathy. HIV ELISA was negative; tuberculin skin test was positive; lymph node biopsy macroscopically revealed caseous granulomas seen on histology; isoniazid- and rifampicin-susceptible Mycobacterium tuberculosis complex isolate was detected on the Hain test. First-line anti-tuberculous drugs were added to his empiric treatment comprising piperacillin–tazobactam, amikacin, cotrimoxazole, and fluconazole. He was discharged after 10 days based on clinical resolution.Diagnoses, interventions, and outcomeAn inborn error of immunity (IEI) was considered given the recurrent fevers and atypical lung nodules. Genetic analysis revealed a hemizygous pathogenic variant on CYBB in keeping with X-linked CGD. The child’s fevers recurred 2 weeks post-discharge but completely resolved on prophylactic itraconazole and cotrimoxazole. He underwent a successful haplo-identical hematopoietic stem cell transplantation at an experienced center in India with his father as the donor and is currently doing well on post-transplant follow-up.ConclusionGenetic testing is relatively accessible and cost-effective for the diagnosis of IEI in low-and-middle-income countries. Expert multi-disciplinary collaboration is key for successful outcomes

Is it safe and efficacious to remove central lines in pediatric bone marrow transplant patients with platelets less than 20,000/μl?

Abstract Background Patients with tunneled central venous lines (CVL) may develop bloodstream infections which at times are difficult to control without line removal. Concomitant severe thrombocytopenia with platelet transfusion refractoriness is often considered a major contraindication to any procedure involving a major blood vessel. There is very little literature on the clinical risks of tunneled central line removal in febrile pancytopenia patients. Procedure We analyzed complications and outcomes in all our patients, a total of 52, who underwent CVL removal with platelets <20,000/μl. Results CVL removal was done on a median day of 17.5 with 47 of the 52 patients never having achieved platelets engraftment prior to line removal. No bleeding episodes or unplanned transfusions could be associated with CVL removal. No other complications were also reported. All patients had time to hemostasis within 5 min of catheter removal. Removal of CVL under local anesthesia remained complication‐free even at platelet counts less than 20,000/ul. A total of 31 patients were febrile at the time of CVL removal, of which 17 became afebrile within 2 days. We found no difference in defervescence when comparing those whose antibiotic therapy was changed/escalated versus those in whom it was not. Conclusion Our findings suggest that central lines can be safely removed with platelet counts less than 20,000/ul and that this may result in enhanced bloodstream infection control. This might be particularly relevant to neutropenic patients in this day and age of multidrug‐resistant organism emergence and paucity of new effective antibiotics

Low-cost matched sibling bone marrow transplant for standard-risk thalassemia in a limited-resource setting

Thalassemias are the most common inherited genetic disorder in India and a major public health burden with bone marrow transplant (BMT) considered the only established curative therapy. We describe outcomes for patients (n = 71) with standard-risk thalassemia (liver size 80 at the last follow up. 5 patients (7%) died, mortality related to transplant. Enough data existed for 2 centers in India (36/71 transplants) to analyze overall costs from admission up to one-year post-BMT which revealed a median cost of Rs 7,30,445 ($11519) [Range Rs 4,52,821–10,32,842 ($ 7079–16147)]. In conclusion, children with thalassemia in resource limited settings can achieve good outcomes with BMT at a reasonable cost