Chronic Granulomatous Disease: A Case Series

Introduction Chronic granulomatous disease (CGD) presents with life-threatening infections caused by a hereditary defect in forming reactive oxygen. A retrospective case review conducted at the Instituto Nacional de Salud del Niño (INSN), Breña, over the last 10 years allows us to understand the demographic, laboratory, and clinical characteristics of affected patients within a Peruvian pediatric population. Objective To describe clinical manifestations and laboratory findings of eight children with CGD. Results Table 1. Demographic characteristics Patients Sex Symptom onset (months) Age at diagnosis Current age P1 Male 6 2 years - P2 Male 2 6 months - P3 Male 5 12 months - P4 Male 2 4 years - P5 Female 11 11 years 19 years P6 Male 4 5 months - P7 Male 8 2 years 2 years 5 months P8 Male 1 3 months 6 months Table 2. Infectious agents and clinical manifestations Patients Infectious agents Viral serology Clinical manifestations Vital status Treatment P1 Staphylococcus haemolyticus, Pseudomonas, Aspergillus Not detected Skin lesion, granuloma, pneumonia Deceased P2 Serratia marcescens EBV IgM/IgG, CMV IgG Pneumonia, abscesses, anemia Deceased P3 Salmonella sp. CMV IgG Abscesses, diarrhea, fever, anemia Deceased P4 Pseudomonas, Klebsiella, Candida CMV IgG Abscesses, diarrhea, fever, vomiting, pneumonia Deceased P5 Mycobacterium tuberculosis, Aspergillus EBV IgG Pneumonia, abscesses Alive ATB+ATF+Cortocoid P6 E. coli CMV IgG, EBV IgG Abscess, fever, diarrhea Deceased P7 Staphylococcus aureus CMV IgG Fever, cervical and axillary lymphadenopathy Alive TMP/SMX P8 No report CMV IgM Abscesses, pneumonia Alive TMP/SMX ATB = antibiotics, ATF = antifungals, TMP/SMX = trimethoprim/sulfamethoxazole, CST= corticosteroid treatment. Table 3. Laboratory findings Patients NBT1 DHR2 SI3 TB-PCR BCG-itis Affected gene P1 5 Not done Not done No CYBB P2 5 1 Not done No Not done P3 Not done 2.4 Not done No Not done P4 Not done 2 Not done No Not done P5 Not done 1.5 Positive No NCF2 P6 Not done 1.2 Not done No Not done P7 Not done 1.1 Negative Yes Not done P8 Not done 0.9 Not done Yes Not done 1 NBT: nitroblue tetrazolium. 2 DHR: 123 Dihydrorhodamine, 3 SI: stimulation index. Figure 1. Dihydrorhodamine (DHR) test in patient 7, patient 8, and a healthy control. Figure 2. Chest CT of patient 7. Discussion The average age of diagnosis was 5 years. The mean diagnostic delay was 2 years and 5 months. Staphylococcus aureus, Pseudomonas spp., Aspergillus spp., and Salmonella spp. were the most frequently identified pathogens. The most common clinical manifestations were abscesses, pneumonia, and persistent fever. Less findings included skin involvement, lymphadenopathy, and gastrointestinal symptoms such as diarrhea and vomiting. Severe complications following Bacillus Calmette–Guérin vaccination occurred in two children.