Chediak-Higashi syndrome
also see Phagocyte dysfunction, general

• Genetics: autosomal recessive (chromosome 1)
• Abnormal intracellular protein transport
• Affects PMNs, lymphocytes, platlets, melanocytes
• Lysosomes are unable to fuse with phagosomes : No delivery of proteolytic enzymes

Features:

• Partial oculocutaneous albinism,  silvery hair
• Photophobia; Rotary nystagmus
• Progressive peripheral neuropathy (teens) - (Ataxia telangiectasia also presents with a peripheral neuropathy in the teens)
• Mild bleeding diathesis (impaired platelet aggregation)

Recurrent infections

• Gingivitis/peridontitis
• Skin infections
• Mucous membrane infections
• Respiratory infections
• Enterocolitis
• Gram +/-bacteria and fungi

Life-threatening complications

• Lymphoma-like syndrome
  • Lymphohistiocytic infiltration of liver, spleen, and lymph nodes
  • Pancytopenia
  • Can follow EBV infection
• Predisposition to leukemia/lymphoma

Diagnosis: Large cytoplasmic granules (inclusion bodies) in all nucleated blood cells, Granules are peroxidase positive

Treatment: BMT+/-high dose ascorbic acid+/-interferon

CHLA Board Review 2005