Diagnostic Dilemma

Is it Hyper IgM syndrome?

Author: Pediatric Oncall
A 3 months old boy born of non-consanguineous marriage presented with fever, cough and left focal convulsion for 1 day. On examination he had bulging anterior fontanelle with brisk reflexes and extensor plantar reflex. Other systemic examination was normal. Investigations showed leucocytosis (WBC count = 18,900/cumm) with positive C-reactive protein (192 mg/dl) and CSF revealed 90 cells/cumm with 33% polymorphs and 67% lymphocytes and sugar of 50 mg/dl. His blood culture and CSF culture was negative. He was treated with IV ceftriaxone. On day 10, of IV antibiotics, he developed right shoulder joint arthritis. His antibiotics were then changed to IV vancomycin & meropenem which was given for 42 days. HIV ELISA was negative. Serum immunoglobulins showed elevated IgM and decreased IgG & IgA. He was started on oral trimethoprim-sulphamethoxazole (TMP-SMX) prophylaxis and advised monthly IVIg and bone marrow transplant which parents refused. He continues to have recurrent diarrhea and respiratory tract infections on follow up.

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