Table of Contents

Chediak-Higashi syndrome

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

syndrome, albinism