Cytomegalovirus encephalitis in a child with adenosine deaminase-deficient severe combined immune deficiency: a neuropathologic study

Neuropediatrics. 1998 Jun;29(3):151-4. doi: 10.1055/s-2007-973552.

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.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Deaminase / deficiency*
  • Brain / enzymology
  • Brain / pathology*
  • Brain / virology
  • Cytomegalovirus Infections / etiology
  • Cytomegalovirus Infections / pathology*
  • Cytomegalovirus*
  • Encephalitis, Viral / etiology
  • Encephalitis, Viral / pathology*
  • Fatal Outcome
  • Humans
  • Infant
  • Male
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / enzymology
  • Severe Combined Immunodeficiency / pathology*

Substances

  • Adenosine Deaminase