Methods: 3-month old, female infant, admitted to Pediatric ICU with diarrhea, fever, abdominal pain and distention for 3 days. Umbilical stub fell off within 8 days. Previous history includes 2 episodes of suppurative otitis media. Physical examination at admission: tachypnea, abdominal distention, vestibulovaginal lesion, and extensive ulcerated anal lesion, with major hyperemia, sphincter laxity and edema. She further experienced septic shock, thus requiring fluid replacement, electrolyte imbalance and acid-base correction, blood transfusion, vasoactive drug, hydrocortisone, mechanical ventilation, and empirical antibiotic therapy (Oxacillin and Ceftriaxone). During the clinical course, there was the emergence of abscesses of right upper limb and flank and left lower limb (drained). She received human immunoglobulin, Piperacillin/Tazobactam, sulfamethoxazole-trimethropim, and fluconazole therapeutic dose. She was discharged from hospital on prophylactic antibiotic therapy.
Results: She had leukopenia (2200 white blood cells/mm3). Abdomen X-Ray was performed due to worsening of abdominal distention, thus evidencing pneumoperitoneum requiring surgical intervention to remove the perforated segment of the colon. Rectal swab: Multisensitive Pseudomonas aeruginosa. Echocardiography: left ventricular dysfunction, ejection fraction: 43%. Chest X-ray evidenced thymus. Anti-HIV test – negative, normal immunoglobulins, normal lymphocytes, normal complements, Dihidrorhodamine (DHR): PMA-stimulated granulocyte population with abnormal response (low production of hydrogen peroxide).
Conclusions: CGD is a life-threatening condition which must be suspected in patients developing severe infectious status.