Chronic granulomatous disease

Table of Contents

Alternative Names

CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis


Symptoms
  • Bone infections
  • Frequent and difficult-to-clear skin infections
    • Abscesses
    • Chronic infection inside the nose
    • Furuncles
    • Impetiginized eczema (eczema complicated by an infection)
    • Impetigo
    • Perianal abscesses (abscesses around the anus)
  • Joint infections
  • Persistent diarrhea
  • Pneumonia
    • Occurs frequently
    • Difficult to cure
  • Swollen lymph nodes in the neck; those develop early in life, and stay swollen or occur frequently. The lymph nodes may form abscesses that require surgical drainage.

Signs and tests

Physical examination may show an enlarged liver ( hepatomegaly ), enlarged spleen (splenomegaly), and swelling of multiple lymph nodes all over the body (generalized adenopathy). There may be signs of a bone infection ( osteomyelitis ), sometimes affecting multiple bones.

A tissue biopsy may show granulomas (groups of abnormal phagocytes).

Other tests may include:

  • Bone scan
  • Chest x-ray
  • Complete blood count (CBC)
  • Flow cytometry tests
  • Nitroblue tetrazolium test (NBT) to confirm the disease and detect that the mother is a carrier


Review Date: 09/15/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Jatin M. Vyas, MD, PhD, Instructor in Medicine, Harvard Medical School, Assistant in Medicine, Division of Infectious Disease, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)