Chediak-Higashi syndrome

Epidemiology: rare Pathology: 1) large eosinophilic, peroxidase-positive inclusion bodies in myeloblasts & promyelocytes 2) large lysosomal granules in leukocytes 3) giant melanosomes 4) abnormalintracellular transport to & from lysosome 5) a defect in microtubule polymerization in leukocytes leads to inadequate fusion of lysosomes with endosomes & impaired phagocytosis of bacteria 6) impaired chemotaxis 7) defective mobilization from bone marrow Genetics: 1) autosomal recessive 2) mutation in LYST/CHS gene (1q43) Clinical manifestations: 1) severe immunologic deficiency - recurrent pyogenic infections, esp. with S. aureus 2) lymphomatous-like illness during adolescence 3) periodontal disease 4) partial oculocutaneous albinism 5) nystagmus 6) progressive peripheral neuropathy 7) mental retardation in some patients 8) photophobia 9) bleeding tendency Laboratory: - increased respiratory burst activity - Chediak-Higashi cells in blood Management: - allogeneic hematopoietic stem cell transplantation - otherwise, most patients die at a young age

General

cellular immune dysfunction genetic disease of the immune system genetic syndrome (multisystem disorder) phagocytic disorder

Properties

ASSOCIATED-NEOPLASM[S]: leukemia lymphoma

References

Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 334