Chediak-Higashi syndrome

Main Features

  • Oculocutaneous albinism
    • varying degrees of pigmentation
  • Congenital Immunodeficiency
    • Recurrent pyogenic infections of skin and respiratory tract
  • Bleeding Diathesis
    • mucosal bleeding
    • increased bruising
  • Progressive Neurodegeneration

Eye Findings

  • Reduced Pigment in Iris and Retina

Other Findings

  • Hemophagocytic lymphohistiocytosis (HLH)
    • potentially fatal inflammatory disorder characterized by:
    • Fever
    • cytopenia
    • hepatosplenomegaly
    • lymphadenopathy
  • Learning disability
  • Sensory motor neuropathy in 2nd or 3rd decade
  • Cerebellar ataxia
  • Parkinsonism
  • Cerebellar and cerebral atrophy
  • Spastic paraplegia

Etiology

  • Autosomal Recessive
  • Biallelic mutations in LYST gene- 1q42.3
    • lysosomal trafficking function

Pathology

  • Giant inclusions in the cytoplasm of leukocytes ⇒ pathognomonic
    • reduced leukocyte function
    • neutropenia possible
    • decreased natural killer cells
  • Platelet number usually normal but absent platelet dense granules

Treatment

  • Steroids and chemotherapy
  • Hematopoietic stem cell transplantation (HSCT)

Reference

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