Chronic granulomatous disease

Alternative names:

CGD

Symptoms:

• swollen lymph nodes in the neck that develop early in life and that persist or occur frequently
• abscess formation in the lymph nodes of the neck that require surgical drainage
• frequent and difficult-to-clear skin infections such as:
  • impetigo
  • abscesses
  • furuncles
  • impetiginized eczema (eczema complicated with an infection)
  • perianal abscess

• frequent pneumonia
• pneumonia that is difficult to clear
• persistent diarrhea

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). Signs of osteomyelitis may appear, often affecting many of the bones.

Tissue samples may be obtained for biopsy, which will show granulomas in the biopsied tissue.

Other tests may include:

• NBT test confirms the disease and also detects carrier state in the mother
• CBC
• ESR
• chest X-ray
• bone scan
• liver scan