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Cytomegalovirus encephalitis in a child with adenosine deaminase-deficient severe combined immune deficiency: a
T Takano1, M Zielenska, L E Becker
1Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Abstract:
Cytomegalovirus (CMV) encephalitis is exceptional in patients with genetically determined immune deficiency syndromes. Neuropathologic findings of CMV encephalitis were present at postmortem examination in a child we treated for severe combined immune deficiency. Cultured skin fibroblasts of this male infant revealed a deficiency of adenosine deaminase (ADA). Lacking a suitable bone marrow donor, we used transfusions of red blood cells as a source of ADA. However, the child developed encephalopathy and died at 16 months. The main neuropathologic findings were numerous, widely distributed inclusion-bearing and CMV antigen-positive cells; a complete lack of inflammatory reaction; and cell-to-cell fusion of infected cells reflecting the child's severely impaired immune response.
Insights
Cytomegalovirus (CMV) encephalitis is rare in patients with genetic immune deficiencies. This case highlights CMV encephalitis in an infant with adenosine deaminase deficiency, despite enzyme replacement therapy.
Area of Science:
- Immunology
- Virology
- Neurology
Background:
- Cytomegalovirus (CMV) encephalitis is uncommon in individuals with inherited immune deficiencies.
- Severe combined immune deficiency (SCID) presents a critical challenge in managing opportunistic infections.
Observation:
- Neuropathologic examination revealed CMV encephalitis in an infant with severe combined immune deficiency.
- The infant was diagnosed with adenosine deaminase (ADA) deficiency, a genetic cause of SCID.
- Enzyme replacement therapy using red blood cell transfusions was initiated due to the absence of a bone marrow donor.
Findings:
- The patient developed encephalopathy and succumbed at 16 months of age.
- Postmortem analysis showed widespread CMV inclusion-bearing cells and CMV antigen positivity in the brain.
- A notable absence of inflammatory response and evidence of infected cell fusion were observed, indicative of profound immune dysfunction.
Implications:
- This case underscores the severe neurological complications CMV can cause in profoundly immunocompromised individuals.
- The findings emphasize the critical role of a robust immune response in controlling viral infections like CMV.
- Understanding the neuropathology of CMV in primary immunodeficiencies can inform clinical management and therapeutic strategies.