Chédiak–Higashi Syndrome

  • AR, LYST/CHS1 gene mutation (lysosomal trafficking regulator), defect in vesicle trafficking
  • Giant intracytoplasmic granules (involving melanocytes, platelets, leukocytes)
  • Onset at infancy: oculocutaneous albinism with immunologic deficiency, silvery metallic hair (clumps of melanin microscopically), recurrent infections, easy bruising, progressive neurologic deterioration, giant lysosomal granules, slate-gray skin color
  • “Accelerated phase”: pancytopenia, lymphohistiocytic infiltration of reticuloendothelial system
  • Treatment: stem cell transplantation