Chediak-Higashi syndrome

Chediak-Higashi syndrome

Infobox_Disease
Name = Chédiak-Higashi syndrome


Caption =
DiseasesDB = 2351
ICD10 = ICD10|E|70|3|e|70 (E70.340 ILDS)
ICD9 = ICD9|288.2
ICDO =
OMIM = 214500
MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 704
MeshID = D002609

Chédiak-Higashi syndrome is a rare autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST. It occurs in humans, cattle, white tigers, blue Persian cats and orcasFact|date=June 2008.

Eponym

It is named for Moises Chédiak and Otokata Higashi. [WhoNamedIt|synd|1745] [M. Chédiak. Nouvelle anomalie leucocytaire de caractère constitutionel et familial. Revue d'hématologie, Paris, 1952, 7:362-367. ] [O. Higashi. Congenital gigantism of peroxidase granules. The first case ever reported of qualitative abnormality of proxidase. Tohoku Journal of Experimental Medicine, Sendai, 1953-1954, 59: 315-332.]

Presentation

It is a disease with impaired bacteriolysiscite web |url=http://www.merck.com/mmpe/sec13/ch164/ch164d.html |title=Ch�diak-Higashi Syndrome: Immunodeficiency Disorders: Merck Manual Professional |accessdate=2008-03-01 |format= |work=] due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes.

In addition, secretion of lytic secretory granules by cytotoxic T cells is also affected.

The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anemia, and hepatomegaly.

Clinical findings

There are several manifestations of Chédiak-Hegashi syndrome as mentioned above; however, neutropenia seems to be the most common. The syndrome is also associated with oculocutaneous albinism. Persons are also prone for infections, especially with "Staphylococcus aureus".

Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.

ee also

* Griscelli syndrome (also known as "Chediak-Higashi like syndrome")

References


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