Chediak-Higashi syndrome

Epidemiology

rare

Pathology

• large eosinophilic, peroxidase-positive inclusion bodies in myeloblasts & promyelocytes
• large lysosomal granules in leukocytes
• giant melanosomes
• abnormalintracellular transport to & from lysosome
• a defect in microtubule polymerization in leukocytes leads to inadequate fusion of lysosomes with endosomes & impaired phagocytosis of bacteria
• impaired chemotaxis
• defective mobilization from bone marrow

Genetics

• autosomal recessive
• mutation in LYST/CHS gene (1q43)

Clinical manifestations

• severe immunologic deficiency
  • recurrent pyogenic infections, esp. with S. aureus
• lymphomatous-like illness during adolescence
• periodontal disease
• partial oculocutaneous albinism
• nystagmus
• progressive peripheral neuropathy
• mental retardation in some patients
• photophobia
• 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

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/214500