Chediak-Higashi syndrome -CEW

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====== 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====
  - [[https://pubmed.ncbi.nlm.nih.gov/37254856/|Talbert ML, et al. Chediak-Higashi Syndrome. Curr Opin Hematol. 2023;30(4):144-151]][[https://1drv.ms/b/c/31d83ae8e55e0542/EYptoZtZJIhJrGl2zO40G2UB2rqB8uiFgGs5zp26NSK2Ig?e=mbwUxZ |-]]

{{tag>syndrome albinism}}
syndrome albinism