Bone marrow nonneoplastic
Noninfectious systemic disorders
Chédiak-Higashi syndrome
Author: Nat Pernick, M.D.
Last author update: 1 December 2006
Last staff update: 14 May 2021
Copyright: 2002-2019, PathologyOutlines.com, Inc.
PubMed Search: Bone marrow Chédiak-Higashi syndrome
Table of Contents
Definition / general | Treatment | Microscopic (histologic) description | Peripheral smear images | Positive stains | Differential diagnosis | Additional referencesCite this page: Pernick N. Chédiak-Higashi syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/bonemarrowChediakHigashiSyndrome.html. Accessed June 3rd, 2023.
Definition / general
- Rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport
- Gene was characterized in 1996 as the LYST or CHS1 gene on 1q42-43 (OMIM: Lysosomal Trafficking Regulator; LYST)
- Mutations cause megagranules in promyelocytes and myeloblasts, which persist in mature forms and are associated with neutropenia and recurrent pyogenic infections
- Patients also have partial albinism (decreased hair and eye pigmentation), photophobia, nystagmus
- Scalp hair analysis may also be useful for diagnosis (Clinics (Sao Paulo) 2006;61:327)
Treatment
- Bone marrow transplantation for childhood onset cases is curative; disease is otherwise fatal
Microscopic (histologic) description
- Giant inclusion bodies in leukocyte precursor cells (bodies contain lysosomal enzymes)
- Also hemophagocytosis (Hematology Am Soc Hematol Educ Program 2005;1:82)
- Peripheral smear: giant granules in neutrophils, eosinophils and granulocytes
Peripheral smear images
Images hosted on other servers:
Giant inclusion bodies
Positive stains
- Granules: myeloperoxidase
Differential diagnosis
Additional references
