Diagnostic Dilemma

Is it Hyper IgM syndrome?

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.

Is it Hyper IgM syndrome?
Expert Opinion :
We were unable to do genetic testing due to cost issues.
Answer Discussion :
Pradhyumna Khadka
Yeah, it seems like Hyper IgM syndrome.....
3 months ago
Maha Arnaout
Primary immune deficiency
3 months ago

View More Comments

Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0