Disease Information for Chediak-Higashi syndrome

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.-----------------------------------------------------

Chediak Higashi Syndrome

Begnez-Cesar"s Syndrome

CHS

Chediak-Steinbrinck-Higashi Syndrome

Leukocytic Anomaly Albinism

Natural Killer Lymphocytes, Defect in

Oculocutaneous Albinism, Chediak-Higashi Type

Disorder Subdivisions

General Discussion

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient’s white blood cells (leukocytes) are profoundly affected, especially in their capacity to transport cellular proteins, immune disorders are common, along with an increased susceptibility to infections. In addition, CHS patients tend to bruise and bleed easily. Neurological deficits are also common.

CHS is transmitted as an autosomal recessive trait.[nord 2005]

Béguez César"s syndrome

Also known as:

Beguez César-Steinbrinck-Chédiak-Higashi syndrome

Chédiak"s anomaly

Chédiak"s disease

Chédiak-Steinbrinck syndrome

Chédiak-Steinbrinck-Higashi syndrome

Steinbrinck"s anomaly

Chédiak-Higashi syndrome

Synonyms:

Oculocutaneous albinism, leukocyte anomaly-albinism, constitutional granular gigantism.

Associated persons:

Antonio Béguez César

Alexander Moisés Chédiak

Otokata Higashi

W. Steinbrinck

Description:

A multisystem fatal familial metabolic disorder with abnormal granulation of leukocytes and susceptibility to infections. Long list of anomalies and malformations, including partial albinism photophobia, decreased lacrimation, hyperhidrosis, pale optic fundi. Progressive neuropathy with muscle weakness may occur. Occurs in infants; children usually die by the age of 5 to 10. Very rare disease. Inheritance is probably autosomal recessive, and so far it has only been observed almost only in cases of consanguinity of the parents. Etiology unknown. [whonamedit.com 2005]

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