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[Life threatening pneumocystis carinii pneumonia in a 4-month-old boy with hyper-IgM syndrome]
R Heiming1, T Beuschausen, T Liebner
1Kinderkrankenhaus auf der Bult, Hannover.
Insights
A rare Hyper-IgM syndrome case in a four-month-old boy presented with severe pneumocystis pneumonia, not due to T-cell deficiency. Early treatment with antibiotics and immunoglobulin replacement led to recovery.
Area of Science:
- Immunology
- Pediatrics
Background:
- Hyper-IgM syndrome is a rare primary immunodeficiency characterized by normal or elevated IgM and deficient IgG, IgA, and IgE.
- Opportunistic infections, such as Pneumocystis pneumonia, are common in immunodeficient patients.
Observation:
- A four-month-old boy presented with life-threatening Pneumocystis pneumonia, initially misattributed to T-cell deficiency.
- The patient was diagnosed with Hyper-IgM syndrome, confirmed by low IgG, IgA, and IgE levels with normal IgM, alongside neutropenia and diarrhea.
Findings:
- Pneumocystis pneumonia, typically rare in isolated immunoglobulin deficiencies, occurred in this case of Hyper-IgM syndrome.
- The patient recovered with intensive care, Cotrimoxacol treatment, and subsequent regular IgG substitution.
Implications:
- This case highlights the importance of considering Hyper-IgM syndrome in infants with opportunistic infections, even without apparent T-cell defects.
- Prophylactic antibiotics and immunoglobulin replacement are crucial for managing patients with Hyper-IgM syndrome to prevent recurrent infections.
Abstract:
At the age of four months, a boy with a normal history and family history, suddenly fell ill with a life-threatening pneumocystis carinii-pneumonia. Surprisingly, this opportunistic infection was not brought about by a T-cell deficiency. However, the patient's diagnosis turned out to be the rare "Hyper-IgM-syndrome", confirmed by: serum levels of IgM always at least normal whereas IgG, IgA and IgE were markedly decreased or absent; the development of neutropenia and occasional diarrhea. Generally, infections with pneumocystis carinii are rare in isolated deficiencies of immunoglobulines, but relatively frequent in primary "Hyper-IgM-syndrome" (approx. 12% of the cases described). The boy finally recovered after receiving Cotrimoxacol (20 mg/kg bw/d) in an intensive care unit. Now, at the age of nearly two his condition is almost good under regular substitution of IgG. Cotrimoxacol (4 mg/kg bw/d) is recommended to prevent further pneumocystis carinii infections and most of the pathogenes which frequently appear in neutropenias.