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Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?
  1. R Lakshman1,
  2. S Bruce2,
  3. D A Spencer3,
  4. D Crawford4,
  5. A Galloway5,
  6. P N Cooper6,
  7. D Barge7,
  8. D Roos8,
  9. T J Flood1,
  10. M Abinun1
  1. 1Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne NE4 6BE, UK
  2. 2Department of Paediatrics, Sunderland Royal Hospital, Sunderland SR4 7TP, UK
  3. 3Department of Paediatric Respiratory Medicine, Newcastle upon Tyne Hospitals NHS Trust, Freeman Hospital, Newcastle, NE7 7DN, UK
  4. 4Department of Paediatric Intensive Care, Newcastle upon Tyne Hospitals NHS Trust
  5. 5Department of Clinical Microbiology, Newcastle upon Tyne Hospitals NHS Trust
  6. 6Department of Histopathology, Newcastle upon Tyne Hospitals NHS Trust, Royal Victoria Infirmary, Newcastle, NE1 4LP, UK
  7. 7Immunology Laboratory, Newcastle upon Tyne Hospitals NHS Trust, Royal Victoria Hospital
  8. 8Sanquin Research at CLB and Landsteiner Laboratory of the Academic Medical Centre, University of Amsterdam, 1066 CX Amsterdam, The Netherlands
  1. Correspondence to:
    Dr M Abinun
    Children’s Bone Marrow Transplantation Unit, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, UK; Mario.Abinunncl.ac.uk

Abstract

A previously healthy 11 year old boy died unexpectedly after a rapid course of progressive pneumonia. Postmortem microbiology and histopathology suggested an underlying diagnosis of chronic granulomatous disease. This was confirmed by neutrophil oxidative burst and gene mutation analysis of other family members, one of whom benefited from early bone marrow transplantation.

  • CGD, chronic granulomatous disease
  • chronic granulomatous disease
  • Burkholderia cepacia
  • palatal granulomatous mucositis
  • autoimmunity

https://doi.org/10.1136/jcp.2004.025098

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    Footnotes

    • Consent was obtained from the parents of the child presented in this case report.